Canonical Allele Identifier: PA2827616505
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 365360
ClinVar RCV Id: RCV000304137 RCV000393561 RCV001810866 RCV002323570 RCV002523743
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Thr1067Ile
CA5297452
NM_001351527.2:c.3200C>T