Canonical Allele Identifier: PA2825946813
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2098439
ClinVar RCV Id: RCV003019188
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Asn94Lys
CA392238414
NM_001160227.2:c.282C>G
CA392238415
NM_001160227.2:c.282C>A