Allele Registry

Canonical Allele Identifier: PA129443

Gene: PDHX HGNC NCBI

ClinVar RCV:

RCV000023731

RCV000198591

RCV003330399

ClinVar Variation:

30752

HGVS (amino-acid)	Matching Registered Transcripts
NP_003468.2:p.Arg15His	CA129442 NM_003477.3:c.44G>A