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
ENSP00000261304.2:p.Val246Leu	CA390749302 ENST00000261304.7:c.736G>T CA390749303 ENST00000261304.7:c.736G>C