biolink-model

Class: SequenceVariant

A sequence_variant is a non exact copy of a sequence_feature or genome exhibiting one or more sequence_alteration.

URI: biolink:SequenceVariant


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Inherited from gene product mixin:

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Other properties

     
Aliases:   allele
Local names:   allele (agr)
Alt Descriptions:   An entity that describes a single affected, endogenous allele. These can be of any type that matches that definition (AGR)
    A contiguous change at a Location (VMC)
Comments:   This class is for modeling the specific state at a locus. A single DBSNP rs ID could correspond to more than one sequence variants (e.g CIViC:1252 and CIViC:1253, two distinct BRCA2 alleles for rs28897743)
In Subsets:   model_organism_database
Exact Mappings:   WIKIDATA:Q15304597
Close Mappings:   dcid:Allele
    SO:0001060
    VMC:Allele
    GENO:0000002
    SIO:010277
    SO:0001060