Allele Registry

Canonical Allele Identifier: PA2826254139

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000169377

RCV001269916

ClinVar Variation:

188997

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Arg508Cys	CA274231 NM_001201401.2:c.1522C>T