Allele Registry

Canonical Allele Identifier: PA915992965

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000292563

ClinVar Variation:

281060

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Trp252Arg	CA10603797 NM_001173454.2:c.754T>C CA412394394 NM_001173454.2:c.754T>A