Canonical Allele Identifier: PA2827616176
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 2289
ClinVar RCV Id: RCV000002379 RCV000644828 RCV000724322 RCV000789615 RCV003233065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Leu389Ser
CA252183
NM_001351527.2:c.1166T>C