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
ENSP00000508382.1:p.Glu394Asp	CA393061280 ENST00000684041.1:c.1182G>T CA393061283 ENST00000684041.1:c.1182G>C