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: PA2573056367

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 481538

ClinVar RCV Id: RCV000565774 RCV001347019

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Asp237Val	CA387759945 NM_000059.4:c.710A>T