Allele Registry

Canonical Allele Identifier: PA2828121171

Gene: SPG7 HGNC NCBI

ClinVar Allele:

222538

ClinVar RCV:

RCV000206309

RCV000993072

RCV003897449

ClinVar Variation:

220393

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Ser635Leu	CA350356 NM_001363850.1:c.1904C>T