Allele Registry

Canonical Allele Identifier: PA2827617263

Gene: SETX HGNC NCBI

ClinVar Allele:

317319

ClinVar RCV:

RCV000293531

RCV000348329

RCV002411265

RCV002523741

ClinVar Variation:

365340

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338456.1:p.Ala2596Val	CA5296324 NM_001351527.2:c.7787C>T