Allele Registry

Canonical Allele Identifier: PA2828121125

Gene: SPG7 HGNC NCBI

ClinVar Allele:

213917

ClinVar RCV:

RCV000235251

RCV000413737

RCV001847906

ClinVar Variation:

217269

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Ala572Val	CA8244370 NM_001363850.1:c.1715C>T