Canonical Allele Identifier: PA2827616730
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448329
ClinVar RCV Id: RCV000518326 RCV001165737 RCV001167321 RCV000550269 RCV004537862 RCV002329225 RCV001644615 RCV001848902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Ala1478Glu
CA5297202
NM_001351527.2:c.4433C>A