Allele Registry

Canonical Allele Identifier: PA916062688

Gene: SPG7 HGNC NCBI

ClinVar Allele:

211737

ClinVar RCV:

RCV000817246

RCV001722098

RCV001847886

RCV002515437

ClinVar Variation:

215198

HGVS (amino-acid)	Matching Registered Transcripts
NP_955399.1:p.Ala2Thr	CA321845 NM_199367.3:c.4G>A