Allele Registry

Canonical Allele Identifier: PA645426490

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000293531

RCV000348329

RCV002411265

RCV002523741

ClinVar Variation:

365340

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Ala2596Val	CA5296324 NM_015046.7:c.7787C>T