ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031126
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_001338457.1:p.Ala2625Val
CA5296324
NM_001351528.2:c.7874C>T