Allele Registry

Canonical Allele Identifier: PA2826088317

Gene: PDHA1 HGNC NCBI

ClinVar Allele:

25921

2951187

ClinVar RCV:

RCV000011629

RCV003621954

ClinVar Variation:

10882

2795237

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166926.1:p.Phe212Leu	CA121217 NM_001173455.2:c.636C>G CA412394264 NM_001173455.2:c.634T>C CA412394274 NM_001173455.2:c.636C>A