Allele Registry

Canonical Allele Identifier: PA2826254745

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169377

RCV001269916

ClinVar Variation:

188997

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Arg505Cys	CA274231 NM_001201402.2:c.1513C>T