Canonical Allele Identifier: PA2825948176
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2037072
ClinVar RCV Id: RCV002885479 RCV004065955
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Leu1776Phe
CA392222789
NM_001160227.2:c.5326C>T