Canonical Allele Identifier: PA916026918
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 713
ClinVar RCV Id: RCV000000748 RCV001193737
ClinVar Variation Id: 1048220
ClinVar RCV Id: RCV001578322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Thr318Ser
CA339831
NM_001323544.2:c.953C>G
CA397101310
NM_001323544.2:c.952A>T