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
ENSP00000455114.1:p.Val475Leu	CA393059147 ENST00000566304.5:c.1423G>T CA393059149 ENST00000566304.5:c.1423G>C