Allele Registry

Canonical Allele Identifier: PA2827194299

Gene: GALNS HGNC NCBI

ClinVar RCV:

RCV000179765

RCV000310050

ClinVar Variation:

198427

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310473.1:p.Arg228Gln	CA247068 NM_001323544.2:c.683G>A