Canonical Allele Identifier: PA2827617171
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 365343
ClinVar RCV Id: RCV000266732 RCV000361458 RCV002524586 RCV002379256 RCV004546488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Leu2469Pro
CA5296398
NM_001351527.2:c.7406T>C