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.Trp78Cys	CA393070064 ENST00000567213.2:c.234G>T CA393070066 ENST00000567213.2:c.234G>C