Allele Registry

Canonical Allele Identifier: PA2826254249

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000078197

RCV000290698

RCV000586993

RCV001422616

ClinVar Variation:

92500

1100101

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Thr618Ala	CA145810 NM_001201401.2:c.1852A>G CA264674684 NM_001201401.2:c.1851_1852delinsTG