Allele Registry

Canonical Allele Identifier: PA334635

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000710226

RCV001083164

RCV001847796

RCV002362862

RCV003917575

ClinVar Variation:

188332

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Leu2357Phe	CA334634 NM_025137.4:c.7069C>T