Allele Registry

Canonical Allele Identifier: PA2826254747

Gene: GALC HGNC NCBI

ClinVar RCV:

RCV000761503

ClinVar Variation:

623356

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Arg505Pro	CA390746116 NM_001201402.2:c.1514G>C