Allele Registry

Canonical Allele Identifier: PA2827617358

Gene: SETX HGNC NCBI

ClinVar RCV:

RCV000516965

RCV001049138

RCV002404330

ClinVar Variation:

448309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.His58Tyr	CA200838114 NM_001351528.2:c.172C>T