Allele Registry

Canonical Allele Identifier: PA2825948474

Gene: SPG11 HGNC NCBI

ClinVar Allele:

242046

ClinVar RCV:

RCV000232056

RCV001082129

RCV002374379

RCV003939889

ClinVar Variation:

241598

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Arg2098His	CA7534056 NM_001160227.2:c.6293G>A