Allele Registry

Canonical Allele Identifier: PA915992994

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000197492

ClinVar Variation:

214933

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Ala274Glu	CA321964 NM_001173454.2:c.821C>A