Allele Registry

Canonical Allele Identifier: PA1139690372

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV001091314

RCV001731151

ClinVar Variation:

214940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Arg165Trp	CA321249 NM_001173454.2:c.493C>T