Allele Registry

Canonical Allele Identifier: PA2826253910

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000180100

ClinVar Variation:

92511

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188330.1:p.Trp265Arg	CA220413 NM_001201401.2:c.793T>C CA390747819 NM_001201401.2:c.793T>A