Allele Registry

Canonical Allele Identifier: PA2825948522

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000224214

RCV001085256

RCV001260212

RCV001847948

RCV002365166

RCV003919902

ClinVar Variation:

235362

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Asp2140Glu	CA7534007 NM_001160227.2:c.6420C>G CA392213948 NM_001160227.2:c.6420C>A