Allele Registry

Canonical Allele Identifier: PA2827617834

Gene: SETX HGNC NCBI

ClinVar Allele:

307168

ClinVar RCV:

RCV000304137

RCV000393561

RCV001810866

RCV002323570

RCV002523743

ClinVar Variation:

365360

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Thr1067Ile	CA5297452 NM_001351528.2:c.3200C>T