Allele Registry

Canonical Allele Identifier: PA915993108

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000195575

RCV001853190

RCV002354555

ClinVar Variation:

214947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Ser426Ter	CA319929 NM_001173454.2:c.1273_1276dup