Canonical Allele Identifier: PA2827617841
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 424687
ClinVar RCV Id: RCV000515959 RCV000517650 RCV001082564 RCV001167391 RCV001168005 RCV001283502 RCV002446949 RCV003105922 RCV004535538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Asp1077Asn
CA5297445
NM_001351528.2:c.3229G>A