Allele Registry

Canonical Allele Identifier: PA2827618396

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000002376

ClinVar Variation:

2286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Pro2213Leu	CA252178 NM_001351528.2:c.6638C>T