Canonical Allele Identifier: PA2825204628
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_000503.1:p.Thr281_Asn289del
CA624206560
NM_000512.5:c.841_867del