Allele Registry

Canonical Allele Identifier: PA2826088404

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000822565

ClinVar Variation:

664466

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166926.1:p.Ala243Val	CA412394585 NM_001173455.2:c.728C>T