Allele Registry

Canonical Allele Identifier: PA2826253818

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000078203

RCV000355494

RCV001647048

ClinVar Variation:

92506

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Arg161Cys	CA145817 NM_001201401.2:c.481C>T