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.Gln55His	CA393070319 ENST00000567213.2:c.165G>T CA393070321 ENST00000567213.2:c.165G>C