Canonical Allele Identifier: PA2827617315
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448306
ClinVar RCV Id: RCV000517034 RCV001255858 RCV001851460 RCV003233668 RCV003233667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Cys5del
CA5298154
NM_001351528.2:c.15_17del