Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PDHA1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000369134.5:p.Phe243Leu	CA121217 ENST00000379806.9:c.729C>G CA412394264 ENST00000379806.9:c.727T>C CA412394274 ENST00000379806.9:c.729C>A