Canonical Allele Identifier: PA2827617134
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448343
ClinVar RCV Id: RCV000524648 RCV000518213 RCV003233692 RCV004541620 RCV001814998 RCV003233693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Arg2380Gln
CA5296494
NM_001351527.2:c.7139G>A