Canonical Allele Identifier: PA2827194380
Gene: GALNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1048421
ClinVar RCV Id: RCV001578523 RCV003987848
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310473.1:p.Thr287_Asn295del
CA624206560
NM_001323544.2:c.859_885del