Canonical Allele Identifier: PA916026897
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 528321
ClinVar RCV Id: RCV000633459 RCV002222567 RCV003151799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Phe162Leu
CA397083302
NM_001323544.2:c.486T>G
CA397083303
NM_001323544.2:c.486T>A
CA397083329
NM_001323544.2:c.484T>C