Allele Registry

Canonical Allele Identifier: PA2828121206

Gene: SPG7 HGNC NCBI

ClinVar Allele:

530394

577604

ClinVar RCV:

RCV000640984

RCV000713482

RCV004526729

ClinVar Variation:

533739

586670

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Gly672Arg	CA8244506 NM_001363850.1:c.2014G>A CA397434094 NM_001363850.1:c.2014G>C