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.Ile341Leu	CA390745980 ENST00000555000.5:c.1021A>T CA390745981 ENST00000555000.5:c.1021A>C