Canonical Allele Identifier: PA2827617527
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 365372
ClinVar RCV Id: RCV000262880 RCV000320659 RCV000687686 RCV002392927 RCV002472998 RCV004544713
ClinVar Variation Id: 2947330
ClinVar RCV Id: RCV003801520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Ser464Leu
CA5297785
NM_001351528.2:c.1391C>T
CA2740092910
NM_001351528.2:c.1391_1392delinsTG