Allele Registry

Canonical Allele Identifier: PA2826254141

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV002037226

ClinVar Variation:

1345348

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Arg508Leu	CA390746115 NM_001201401.2:c.1523G>T