Allele Registry

Canonical Allele Identifier: PA2827618362

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000342521

RCV000407208

RCV001358835

RCV001662351

RCV002365439

ClinVar Variation:

365349

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Arg2105Trp	CA5296776 NM_001351528.2:c.6313C>T