Allele Registry

Canonical Allele Identifier: PA321250

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV001091314

RCV001731151

ClinVar Variation:

214940

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Arg127Trp	CA321249 NM_000284.4:c.379C>T