Canonical Allele Identifier: PA2827616631
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 424692
ClinVar RCV Id: RCV000515884 RCV000560688 RCV000859602 RCV001169791 RCV001169792 RCV002356794 RCV004541530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Gln1276Glu
CA5297318
NM_001351527.2:c.3826C>G