Allele Registry

Canonical Allele Identifier: PA915992946

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000011629

RCV003621954

ClinVar Variation:

10882

2795237

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