Allele Registry

Canonical Allele Identifier: PA2826088204

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV001091314

RCV001731151

ClinVar Variation:

214940

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166926.1:p.Arg134Trp	CA321249 NM_001173455.2:c.400C>T