Allele Registry

Canonical Allele Identifier: PA2826089135

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000407596

RCV003225059

ClinVar Variation:

291255

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Ala318Thr	CA10607080 NM_001173456.2:c.952G>A