Allele Registry

Canonical Allele Identifier: PA2828121180

Gene: SPG7 HGNC NCBI

ClinVar RCV:

RCV000520300

RCV001066395

ClinVar Variation:

451927

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350779.1:p.Thr644Ile	CA397432955 NM_001363850.1:c.1931C>T