Allele Registry

Canonical Allele Identifier: PA645408201

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000414944

RCV000801301

RCV001268887

RCV001848737

RCV003105892

RCV003168606

RCV003483611

ClinVar Variation:

374112

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Leu1794Pro	CA7534422 NM_025137.4:c.5381T>C