Allele Registry

Canonical Allele Identifier: PA2827616474

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000516603

RCV001851461

RCV003233677

RCV003233678

RCV004537860

ClinVar Variation:

448319

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338456.1:p.Arg1010Cys	CA5297495 NM_001351527.2:c.3028C>T