Canonical Allele Identifier: PA2825948194
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 534882
ClinVar RCV Id: RCV000642580 RCV002467966 RCV002467965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Glu1798Lys
CA7534419
NM_001160227.2:c.5392G>A