Allele Registry

Canonical Allele Identifier: PA2827617312

Gene: SETX HGNC NCBI

ClinVar Allele:

486464

ClinVar RCV:

RCV000585415

RCV001860113

RCV002341496

RCV004530634

ClinVar Variation:

493501

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338457.1:p.Ser2Gly	CA5298157 NM_001351528.2:c.4A>G