Canonical Allele Identifier: PA2827193852
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 698
ClinVar RCV Id: RCV000000733
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310472.1:p.Asn19Lys
CA251563
NM_001323543.2:c.57C>G
CA397081177
NM_001323543.2:c.57C>A