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: PA2573059282

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51513

ClinVar RCV Id: RCV000113212 RCV001852936 RCV003156762

ClinVar Variation Id: 1809548

ClinVar RCV Id: RCV002481127 RCV003157206 RCV003530271

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Ser1248Arg	CA018688 NM_000059.4:c.3742A>C CA387778159 NM_000059.4:c.3744T>A CA387778160 NM_000059.4:c.3744T>G