Allele Registry

Canonical Allele Identifier: PA916031105

Gene: SETX HGNC NCBI

ClinVar Allele:

317323

ClinVar RCV:

RCV000266732

RCV000361458

RCV002379256

RCV002524586

RCV004546488

ClinVar Variation:

365343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Leu2498Pro	CA5296398 NM_001351528.2:c.7493T>C