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
ENSP00000478217.1:p.Phe73Leu	CA393070118 ENST00000567213.2:c.219C>G CA393070119 ENST00000567213.2:c.219C>A CA393070129 ENST00000567213.2:c.217T>C