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.Ser343Arg	CA390747226 ENST00000393569.6:c.1029C>G CA390747227 ENST00000393569.6:c.1029C>A CA390747232 ENST00000393569.6:c.1027A>C