Allele Registry

Canonical Allele Identifier: PA206410

Gene: GALC HGNC NCBI

ClinVar Allele:

208128

ClinVar RCV:

RCV000193133

RCV000395974

RCV002261004

RCV003955152

ClinVar Variation:

211059

HGVS (amino-acid)	Matching Registered Transcripts
NP_000144.2:p.Arg220Gln	CA206409 NM_000153.4:c.659G>A