Allele Registry

Canonical Allele Identifier: PA2825947678

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000462305

RCV000765212

RCV001260216

RCV001508758

RCV001848803

RCV002467814

RCV002467815

RCV003401464

ClinVar Variation:

406532

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Ser1142Cys	CA7534986 NM_001160227.2:c.3425C>G