Allele Registry

Canonical Allele Identifier: PA915993102

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000323139

ClinVar Variation:

285776

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Arg416Leu	CA10605241 NM_001173454.2:c.1247G>T