Canonical Allele Identifier: PA2825946876
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 406509
ClinVar RCV Id: RCV000469553 RCV001788224 RCV001848801 RCV002222513 RCV002348299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Ser164Leu
CA7535810
NM_001160227.2:c.491C>T