Canonical Allele Identifier: PA2827617176
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448346
ClinVar RCV Id: RCV000518280 RCV000764810 RCV000624322 RCV001731743 RCV001702669 RCV004541621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Thr2478Ala
CA5296390
NM_001351527.2:c.7432A>G