Allele Registry

Canonical Allele Identifier: PA2827616467

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000507293

RCV000552319

RCV001089104

RCV002438234

RCV004541589

ClinVar Variation:

440267

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338456.1:p.Asn1004Asp	CA5297500 NM_001351527.2:c.3010A>G