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: GALC HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000377199.2:p.Asp483Glu	CA390746259 ENST00000393569.6:c.1449T>G CA390746260 ENST00000393569.6:c.1449T>A