Canonical Allele Identifier: PA658661487
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466536
ClinVar RCV Id: RCV000552827 RCV002467872 RCV002467873 RCV001755844 RCV004024023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Met1712Arg
CA392223223
NM_025137.4:c.5135T>G