Canonical Allele Identifier: PA2827616832
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 468516
ClinVar RCV Id: RCV000558440 RCV000859806 RCV001644653 RCV002341378 RCV001848953 RCV004538011
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Pro1661Arg
CA5297098
NM_001351527.2:c.4982C>G