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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000377199.2:p.Glu248Asp
CA390747997
ENST00000393569.6:c.744A>T
CA390748000
ENST00000393569.6:c.744A>C