Canonical Allele Identifier: PA2827618373
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 2291
ClinVar RCV Id: RCV000002381 RCV000789616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Arg2136His
CA252187
NM_001351528.2:c.6407G>A