Allele Registry

Canonical Allele Identifier: PA2826254452

Gene: GALC HGNC NCBI

ClinVar Allele:

208128

ClinVar RCV:

RCV000193133

RCV000395974

RCV002261004

RCV003955152

ClinVar Variation:

211059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001188331.1:p.Arg194Gln	CA206409 NM_001201402.2:c.581G>A