Allele Registry

Canonical Allele Identifier: PA204902

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000190809

RCV000960645

RCV001721242

RCV003937678

ClinVar Variation:

208783

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Val262Ile	CA204901 NM_000284.4:c.784G>A