Allele Registry

Canonical Allele Identifier: PA2828120783

Gene: SPG7 HGNC NCBI

ClinVar RCV:

RCV000175748

RCV002056943

ClinVar Variation:

195194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Leu78Phe	CA241505 NM_001363850.1:c.234G>T CA397416830 NM_001363850.1:c.234G>C