Class: Variant

A genetic variant, preferably identified by a canonical allele id

Slots

Name	Range	Cardinality	Description	Info
has_gene	Gene	0..1	Connects an entity associated with one or more genes	.
canonical_allele_id	string	1..1	None	.
hgvs_c	string	0..1	None	.
hgvs_p	string	0..1	None	.
clinvar_id	string	0..1	None	.
legacy_name	string	0..*	None	.

Usages

used by	used in	type	used
FunctionalAssayResult	variant	range	Variant

Identifier and Mapping Information

LinkML Specification

Direct

name: Variant
description: A genetic variant, preferably identified by a canonical allele id
from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
slots:
- has gene
attributes:
  canonical_allele_id:
    name: canonical_allele_id
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    identifier: true
    required: true
  hgvs c:
    name: hgvs c
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
  hgvs p:
    name: hgvs p
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
  clinvar id:
    name: clinvar id
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
  legacy name:
    name: legacy name
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    multivalued: true

Induced

name: Variant
description: A genetic variant, preferably identified by a canonical allele id
from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
attributes:
  canonical_allele_id:
    name: canonical_allele_id
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    identifier: true
    alias: canonical_allele_id
    owner: Variant
    range: string
    required: true
  hgvs c:
    name: hgvs c
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: hgvs_c
    owner: Variant
    range: string
  hgvs p:
    name: hgvs p
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: hgvs_p
    owner: Variant
    range: string
  clinvar id:
    name: clinvar id
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: clinvar_id
    owner: Variant
    range: string
  legacy name:
    name: legacy name
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    multivalued: true
    alias: legacy_name
    owner: Variant
    range: string
  has gene:
    name: has gene
    description: Connects an entity associated with one or more genes
    from_schema: https://dataexchange.clinicalgenome.org/variant-functional-assay
    alias: has_gene
    owner: Variant
    range: gene