Allele Registry

Canonical Allele Identifier: PA2826254142

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000761503

ClinVar Variation:

623356

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Arg508Pro	CA390746116 NM_001201401.2:c.1523G>C