Canonical Allele Identifier: PA2827616171
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 1944839
ClinVar RCV Id: RCV002639973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Met382Ile
CA375345424
NM_001351527.2:c.1146G>T
CA375345426
NM_001351527.2:c.1146G>C
CA375345427
NM_001351527.2:c.1146G>A