Allele Registry

Canonical Allele Identifier: PA2825948356

Gene: SPG11 HGNC NCBI

ClinVar Allele:

332021

ClinVar RCV:

RCV000863585

RCV002365371

RCV003332160

ClinVar Variation:

316081

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Leu1982Ser	CA7534186 NM_001160227.2:c.5945T>C