Allele Registry

Canonical Allele Identifier: PA2825140373

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000195575

RCV001853190

RCV002354555

ClinVar Variation:

214947

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Ser388Ter	CA319929 NM_000284.4:c.1159_1162dup