Allele Registry

Canonical Allele Identifier: PA658814790

Gene: SPG11 HGNC NCBI

ClinVar Allele:

528841

ClinVar RCV:

RCV000642551

RCV001507875

RCV002467954

RCV002467955

RCV003243229

ClinVar Variation:

534854

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Arg2137Gln	CA7534137 NM_025137.4:c.6410G>A