Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA2826650917

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 530147

ClinVar RCV Id: RCV000635829 RCV003352954

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269472.1:p.Phe128Leu	CA350457740 NM_001282543.2:c.384T>G CA350457742 NM_001282543.2:c.384T>A CA350457764 NM_001282543.2:c.382T>C