Canonical Allele Identifier: PA2827617952
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 242634
ClinVar RCV Id: RCV000329054 RCV000385882 RCV000644851 RCV001084313 RCV002356315 RCV004532973
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Pro1270Leu
CA048312
NM_001351528.2:c.3809C>T