Canonical Allele Identifier: PA2825948150
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055028
ClinVar RCV Id: RCV001363629
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Phe1752Leu
CA392222943
NM_001160227.2:c.5256C>G
CA392222944
NM_001160227.2:c.5256C>A
CA392222948
NM_001160227.2:c.5254T>C