Canonical Allele Identifier: PA2827616977
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 2292
ClinVar RCV Id: RCV000002382 RCV001781169
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Leu1976Arg
CA252189
NM_001351527.2:c.5927T>G