Allele Registry

Canonical Allele Identifier: PA247069

Gene: GALNS HGNC NCBI

ClinVar Allele:

195588

ClinVar RCV:

RCV000179765

RCV000310050

ClinVar Variation:

198427

HGVS (amino-acid)	Matching Registered Transcripts
NP_000503.1:p.Arg222Gln	CA247068 NM_000512.5:c.665G>A