Allele Registry

Canonical Allele Identifier: PA916031126

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000293531

RCV000348329

RCV002411265

RCV002523741

ClinVar Variation:

365340

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Ala2625Val	CA5296324 NM_001351528.2:c.7874C>T