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: EPM2A HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000405913.2:p.Val249Leu	CA366190434 ENST00000435470.2:c.745G>T CA366190435 ENST00000435470.2:c.745G>C