Canonical Allele Identifier: PA2825948172
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466538
ClinVar RCV Id: RCV000541207 RCV001848946 RCV002467875 RCV002467874 RCV003372748 RCV002509426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Arg1772His
CA7534430
NM_001160227.2:c.5315G>A