Allele Registry

Canonical Allele Identifier: PA2827617476

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000002378

RCV000269785

ClinVar Variation:

2288

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Arg332Trp	CA252181 NM_001351528.2:c.994C>T