Allele Registry

Canonical Allele Identifier: PA645454188

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000292563

ClinVar Variation:

281060

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Trp214Arg	CA10603797 NM_000284.4:c.640T>C CA412394394 NM_000284.4:c.640T>A