Canonical Allele Identifier: PA2827618322
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448339
ClinVar RCV Id: RCV000644817 RCV002358400 RCV002473039 RCV004541618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Gln2000Glu
CA5296854
NM_001351528.2:c.5998C>G