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

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000377199.2:p.Gly587Ter
ENST00000393569.6:c.[1758dup;1760G>A]

ENST00000393569.6:c.1759G>T