Allele Registry

Canonical Allele Identifier: PA2826089177

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000323139

ClinVar Variation:

285776

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Arg347Leu	CA10605241 NM_001173456.2:c.1040G>T