Allele Registry

Canonical Allele Identifier: PA2827618059

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000518326

RCV000550269

RCV001165737

RCV001167321

RCV001644615

RCV001848902

RCV002329225

RCV004537862

ClinVar Variation:

448329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Ala1478Glu	CA5297202 NM_001351528.2:c.4433C>A