Canonical Allele Identifier: PA2825947142
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 843720
ClinVar RCV Id: RCV001046400
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Ser474Arg
CA392235873
NM_001160227.2:c.1422T>G
CA392235874
NM_001160227.2:c.1422T>A
CA392235880
NM_001160227.2:c.1420A>C