Allele Registry

Canonical Allele Identifier: PA2827616832

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000558440

RCV000859806

RCV001644653

RCV001848953

RCV002341378

RCV004538011

ClinVar Variation:

468516

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338456.1:p.Pro1661Arg	CA5297098 NM_001351527.2:c.4982C>G