Allele Registry

Canonical Allele Identifier: PA2826089196

Gene: PDHA1 HGNC NCBI

ClinVar Allele:

212020

ClinVar RCV:

RCV000200467

RCV001079335

RCV002363013

ClinVar Variation:

214937

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Lys356Gln	CA325044 NM_001173456.2:c.1066A>C