Canonical Allele Identifier: PA2825947780
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 130365
ClinVar RCV Id: RCV000118405 RCV000233929 RCV000514902 RCV000515991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Lys1273Arg
CA155280
NM_001160227.2:c.3818A>G