Allele Registry

Canonical Allele Identifier: PA915992938

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000578359

RCV001091316

RCV001824834

ClinVar Variation:

488569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Asn202Ser	CA412393370 NM_001173454.2:c.605A>G