Canonical Allele Identifier: PA2827616029
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448309
ClinVar RCV Id: RCV000516965 RCV001049138 RCV002404330
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.His58Tyr
CA200838114
NM_001351527.2:c.172C>T