Allele Registry

Canonical Allele Identifier: PA658662175

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000518116

RCV000695046

RCV002413399

ClinVar Variation:

448307

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Leu564Val	CA5297732 NM_015046.7:c.1690T>G