ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827617228
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536388
ClinVar RCV Id:
RCV000644827
RCV002388094
RCV003482289
RCV004533375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Phe2554Ile
CA5296362
NM_001351527.2:c.7660T>A