Canonical Allele Identifier: PA2827616474
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448319
ClinVar RCV Id: RCV000516603 RCV003233678 RCV004537860 RCV001851461 RCV003233677
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338456.1:p.Arg1010Cys
CA5297495
NM_001351527.2:c.3028C>T