Allele Registry

Canonical Allele Identifier: PA2826253762

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169155

RCV002298498

ClinVar Variation:

188817

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Glu107Lys	CA273994 NM_001201401.2:c.319G>A