Canonical Allele Identifier: PA2827194327
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 93185
ClinVar RCV Id: RCV000079043 RCV001731366 RCV001578306
ClinVar Variation Id: 1406013
ClinVar RCV Id: RCV001906790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.His242Arg
CA221061
NM_001323544.2:c.725A>G
CA2573152753
NM_001323544.2:c.725_726delinsGT