Allele Registry

Canonical Allele Identifier: PA2826089014

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000011632

RCV000127400

RCV000224670

RCV001271289

RCV002311510

RCV003622474

ClinVar Variation:

10885

2801658

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Met251Leu	CA121220 NM_001173456.2:c.751A>C CA412395158 NM_001173456.2:c.751A>T