Allele Registry

Canonical Allele Identifier: PA321965

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000197492

ClinVar Variation:

214933

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Ala236Glu	CA321964 NM_000284.4:c.707C>A