Allele Registry

Canonical Allele Identifier: PA2827618159

Gene: SETX HGNC NCBI

ClinVar Allele:

524390

ClinVar RCV:

RCV000644814

RCV001849022

RCV002334141

RCV002473088

RCV003233771

RCV003233772

ClinVar Variation:

536377

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.His1660Arg	CA5297100 NM_001351528.2:c.4979A>G