Allele Registry

Canonical Allele Identifier: PA252193

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000002385

RCV001288413

RCV003764517

ClinVar Variation:

2295

HGVS (amino-acid)	Matching Registered Transcripts
NP_055861.3:p.Leu1977Phe	CA252191 NM_015046.7:c.5929C>T