Canonical Allele Identifier: PA2827616114
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448351
ClinVar RCV Id: RCV000517524 RCV001168905 RCV001039811 RCV002223857 RCV002420301 RCV001168904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Ser269Leu
CA5297936
NM_001351527.2:c.806C>T