Canonical Allele Identifier: PA2825948195
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079680
ClinVar RCV Id: RCV002998706
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Lys1799Asn
CA392222631
NM_001160227.2:c.5397G>C
CA392222632
NM_001160227.2:c.5397G>T