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)	Transcript change
ENSP00000268097.5:p.Gln384Ter	ENST00000268097.9:c.[1149del;1151A>T;1153... ENST00000268097.9:c.1150C>T