Allele Registry

Canonical Allele Identifier: PA915993022

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000190809

RCV000960645

RCV001721242

RCV003937678

ClinVar Variation:

208783

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Val300Ile	CA204901 NM_001173454.2:c.898G>A