Allele Registry

Canonical Allele Identifier: PA108588

Gene: SPG7 HGNC NCBI

ClinVar Allele:

21858

ClinVar RCV:

RCV000007221

RCV000198037

RCV001847595

RCV002512867

ClinVar Variation:

6819

HGVS (amino-acid)	Matching Registered Transcripts
NP_003110.1:p.Gly349Ser	CA253968 NM_003119.4:c.1045G>A