ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658810447
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536373
ClinVar RCV Id:
RCV000644809
RCV002422333
RCV004533372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ile70Val
CA5298101
NM_015046.7:c.208A>G