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: PA2573057735

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 433760

ClinVar RCV Id: RCV000503284 RCV002524132 RCV003157605 RCV002508217

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ile501Val	CA387764486 NM_000059.4:c.1501A>G