Allele Registry

Canonical Allele Identifier: PA2826088259

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000578359

RCV001091316

RCV001824834

ClinVar Variation:

488569

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166926.1:p.Asn171Ser	CA412393370 NM_001173455.2:c.512A>G