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
NP_001188330.1:p.Asp486Glu	CA390746259 NM_001201401.2:c.1458T>G CA390746260 NM_001201401.2:c.1458T>A