Allele Registry

Canonical Allele Identifier: PA916031131

Gene: SETX HGNC NCBI

ClinVar Allele:

459439

ClinVar RCV:

RCV000537182

RCV001662568

RCV002413562

RCV002461309

RCV004538014

ClinVar Variation:

468527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Asp2653Tyr	CA5296301 NM_001351528.2:c.7957G>T