Allele Registry

Canonical Allele Identifier: PA096773

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000002378

RCV000269785

ClinVar Variation:

2288

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Arg332Trp	CA252181 NM_015046.7:c.994C>T