Allele Registry

Canonical Allele Identifier: PA121221

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000011632

RCV000127400

RCV000224670

RCV001271289

RCV002311510

RCV003622474

ClinVar Variation:

10885

2801658

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Met282Leu	CA121220 NM_000284.4:c.844A>C CA412395158 NM_000284.4:c.844A>T