Canonical Allele Identifier: PA2825947573
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 194676
ClinVar RCV Id: RCV000175101 RCV000204165 RCV001260215 RCV002262769 RCV001847810
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Lys1013Glu
CA201295
NM_001160227.2:c.3037A>G