Allele Registry

Canonical Allele Identifier: PA2827616138

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000644822

RCV001644729

RCV002369707

RCV003424222

ClinVar Variation:

536383

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338456.1:p.Ser323Asn	CA5297886 NM_001351527.2:c.968G>A