Canonical Allele Identifier: PA2827617992
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 365356
ClinVar RCV Id: RCV000320579 RCV000358967 RCV000807443 RCV002356498
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338457.1:p.Lys1340Asn
CA5297284
NM_001351528.2:c.4020G>T
CA200807545
NM_001351528.2:c.4020G>C