Allele Registry

Canonical Allele Identifier: PA2826088403

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000197492

ClinVar Variation:

214933

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166926.1:p.Ala243Glu	CA321964 NM_001173455.2:c.728C>A