Canonical Allele Identifier: PA2825948124
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 3168991
ClinVar RCV Id: RCV004462887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Ile1708Leu
CA392223254
NM_001160227.2:c.5122A>T
CA392223255
NM_001160227.2:c.5122A>C