Allele Registry

Canonical Allele Identifier: PA916031111

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000518280

RCV000624322

RCV000764810

RCV001702669

RCV001731743

RCV004541621

ClinVar Variation:

448346

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Thr2507Ala	CA5296390 NM_001351528.2:c.7519A>G