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
ENSP00000450472.1:p.Phe33Leu	CA390749321 ENST00000555000.5:c.99C>G CA390749322 ENST00000555000.5:c.99C>A CA390749336 ENST00000555000.5:c.97T>C