Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2573160115

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520177

ClinVar RCV Id: RCV002038557 RCV004046974

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Glu238Gly	CA387759955 NM_000059.4:c.713A>G