Allele Registry

Canonical Allele Identifier: PA325313

Gene: SPG7 HGNC NCBI

ClinVar Allele:

211775

ClinVar RCV:

RCV000227318

RCV000766856

RCV001847890

ClinVar Variation:

215219

HGVS (amino-acid)	Matching Registered Transcripts
NP_003110.1:p.Ala759Thr	CA325312 NM_003119.4:c.2275G>A