Allele Registry

Canonical Allele Identifier: PA2828121220

Gene: SPG7 HGNC NCBI

ClinVar RCV:

RCV000118410

RCV000576393

RCV001705869

RCV001847730

ClinVar Variation:

130370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Arg688Gln	CA155289 NM_001363850.1:c.2063G>A