Canonical Allele Identifier: PA2827617606
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 285880
ClinVar RCV Id: RCV000272686 RCV001087861 RCV001165958 RCV004543070 RCV001165957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Met627Thr
CA5297703
NM_001351528.2:c.1880T>C