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: HEXA HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000455114.1:p.Phe316Leu	CA393062386 ENST00000566304.5:c.948C>G CA393062388 ENST00000566304.5:c.948C>A CA393062398 ENST00000566304.5:c.946T>C