ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645426490
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365340
ClinVar RCV Id:
RCV000293531
RCV000348329
RCV002411265
RCV002523741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ala2596Val
CA5296324
NM_015046.7:c.7787C>T