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_001188331.1:p.Leu253Phe	CA390747931 NM_001201402.2:c.759A>T CA390747932 NM_001201402.2:c.759A>C