Allele Registry

Canonical Allele Identifier: PA2573067386

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV001782165

RCV003502609

ClinVar Variation:

1324445

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Gly57Arg	CA265469440 NM_001201401.2:c.169G>C