Allele Registry

Canonical Allele Identifier: PA2826254731

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000174663

RCV000723965

ClinVar Variation:

194322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Glu489Lys	CA274999 NM_001201402.2:c.1465G>A