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Slot: allele_type

Type of allele or mutation (e.g., null, missense, splice_site, deletion, frameshift, nonsense, hypomorphic, structural_variant). Free text retained for legacy or unusually complex contexts. Prefer the structured allelic_events, allelic_hit_role, variant_origin, and functional_impact_category slots when possible.

URI: dismech:slot/allele_type Alias: allele_type

Applicable Classes

Name Description Modifies Slot
GeneticContext A structured description of a genetic context that modifies phenotype frequen... no

Properties

Type and Range

Property Value
Range String
Domain Of GeneticContext

Cardinality and Requirements

Property Value

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

Mappings

Mapping Type Mapped Value
self dismech:allele_type
native dismech:allele_type

LinkML Source

name: allele_type
description: Type of allele or mutation (e.g., null, missense, splice_site, deletion,
  frameshift, nonsense, hypomorphic, structural_variant). Free text retained for legacy
  or unusually complex contexts. Prefer the structured `allelic_events`, `allelic_hit_role`,
  `variant_origin`, and `functional_impact_category` slots when possible.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
alias: allele_type
domain_of:
- GeneticContext
range: string