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: PA2826651238

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231645

ClinVar RCV Id: RCV000217771 RCV001237999

ClinVar Variation Id: 489676

ClinVar RCV Id: RCV000579504 RCV000696721

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269472.1:p.Phe223Leu	CA10577836 NM_001282543.2:c.669C>G CA350456232 NM_001282543.2:c.669C>A CA350456240 NM_001282543.2:c.667T>C