Allele Registry

Canonical Allele Identifier: PA2826254125

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000324608

RCV000726405

ClinVar Variation:

289955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Phe491Ser	CA10606606 NM_001201401.2:c.1472T>C