Canonical Allele Identifier: PA916026906
Gene: GALNS HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Asn210Lys
CA251563
NM_001323544.2:c.630C>G
CA397081177
NM_001323544.2:c.630C>A