Allele Registry

Canonical Allele Identifier: PA2826088458

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000190809

RCV000960645

RCV001721242

RCV003937678

ClinVar Variation:

208783

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166926.1:p.Val269Ile	CA204901 NM_001173455.2:c.805G>A