Allele Registry

Canonical Allele Identifier: PA2826254495

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV001367963

ClinVar Variation:

1058786

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Glu248Ala	CA390748003 NM_001201402.2:c.743A>C