Canonical Allele Identifier: PA2825947650
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 406528
ClinVar RCV Id: RCV000472310 RCV002323697 RCV003155188 RCV002496754
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Cys1107Ser
CA7534998
NM_001160227.2:c.3320G>C
CA392225061
NM_001160227.2:c.3319T>A