Allele Registry

Canonical Allele Identifier: PA916026870

Gene: GALNS HGNC NCBI

ClinVar RCV:

RCV000179764

RCV001578303

ClinVar Variation:

93184

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310472.1:p.Thr50Lys	CA221060 NM_001323543.2:c.149C>A