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: PA915992946

Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10882

ClinVar RCV Id: RCV000011629

ClinVar Variation Id: 2795237

ClinVar RCV Id: RCV003621954

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Phe243Leu	CA121217 NM_001173454.2:c.729C>G CA412394264 NM_001173454.2:c.727T>C CA412394274 NM_001173454.2:c.729C>A