ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031105
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365343
ClinVar RCV Id:
RCV000266732
RCV000361458
RCV002524586
RCV002379256
RCV004546488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Leu2498Pro
CA5296398
NM_001351528.2:c.7493T>C