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
ENSP00000452314.1:p.Asp191Glu	CA390751393 ENST00000557316.5:c.573T>G CA390751395 ENST00000557316.5:c.573T>A