Allele Registry

Canonical Allele Identifier: PA916026928

Gene: GALNS HGNC NCBI

ClinVar Allele:

530382

ClinVar RCV:

RCV000633460

ClinVar Variation:

528322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310473.1:p.Asp394Glu	CA8234784 NM_001323544.2:c.1182C>A CA397097687 NM_001323544.2:c.1182C>G