Canonical Allele Identifier: PA916026928
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 528322
ClinVar RCV Id: RCV000633460

Amino-acid Alleles

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