Allele Registry

Canonical Allele Identifier: PA658810504

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000644819

RCV002458083

RCV003480733

ClinVar Variation:

536380

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Leu804Ser	CA5297599 NM_015046.7:c.2411T>C