Canonical Allele Identifier: PA2825948127
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466536
ClinVar RCV Id: RCV000552827 RCV002467872 RCV002467873 RCV001755844 RCV004024023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Met1712Arg
CA392223223
NM_001160227.2:c.5135T>G