Canonical Allele Identifier: PA337597
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 216771
ClinVar RCV Id: RCV000713414 RCV001260214 RCV001336692 RCV001086819 RCV001847902 RCV002399751 RCV003917821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Gly6Arg
CA337596
NM_025137.4:c.16G>A
CA392238933
NM_025137.4:c.16G>C