Slot: allele_type
Type of allele or mutation (e.g., null, missense, splice_site, deletion, frameshift, nonsense, hypomorphic, structural_variant). Free text to accommodate the diversity of mutation nomenclature.
URI: dismech: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
- Range: String
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 to accommodate
the diversity of mutation nomenclature.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
alias: allele_type
domain_of:
- GeneticContext
range: string