Canonical Allele Identifier: PA2580467722
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2482965
ClinVar RCV Id: RCV003210213

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Ser1767Arg
CA392222845
NM_025137.4:c.5301C>G
CA392222846
NM_025137.4:c.5301C>A
CA392222851
NM_025137.4:c.5299A>C