Allele Registry

Canonical Allele Identifier: PA2828120816

Gene: SPG7 HGNC NCBI

ClinVar RCV:

RCV000515979

RCV000518245

RCV003507282

ClinVar Variation:

424654

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Glu126Gln	CA286523796 NM_001363850.1:c.376G>C