Allele Registry

Canonical Allele Identifier: PA2825948661

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000198221

RCV000609376

RCV001252105

RCV001331387

RCV001847903

RCV002363018

ClinVar Variation:

216774

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Phe2265Leu	CA337736 NM_001160227.2:c.6793T>C CA392212336 NM_001160227.2:c.6795T>G CA392212338 NM_001160227.2:c.6795T>A