Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2499227493

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184419

ClinVar RCV Id: RCV000163673 RCV001347899 RCV003126559

ClinVar Variation Id: 1046760

ClinVar RCV Id: RCV001351359

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Phe165Leu	CA021041 NM_000059.4:c.493T>C CA387757678 NM_000059.4:c.495T>A CA387757679 NM_000059.4:c.495T>G