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