Canonical Allele Identifier: PA2827616475
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 452684
ClinVar RCV Id: RCV000521273 RCV002438262 RCV001306845 RCV004541636 RCV001662531
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Arg1010His
CA5297494
NM_001351527.2:c.3029G>A