Canonical Allele Identifier: PA2827617443
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 448351
ClinVar RCV Id: RCV000517524 RCV001168905 RCV001039811 RCV002223857 RCV002420301 RCV001168904
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Ser269Leu
CA5297936
NM_001351528.2:c.806C>T