Allele Registry

Canonical Allele Identifier: PA2825948642

Gene: SPG11 HGNC NCBI

ClinVar Allele:

186199

ClinVar RCV:

RCV000710226

RCV001083164

RCV001847796

RCV002362862

RCV003917575

ClinVar Variation:

188332

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Leu2244Phe	CA334634 NM_001160227.2:c.6730C>T