Canonical Allele Identifier: PA2499249225
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1048244
ClinVar RCV Id: RCV001578346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Asn493Lys
CA397094159
NM_001323544.2:c.1479C>G
CA397094161
NM_001323544.2:c.1479C>A