ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828810789
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1483328
ClinVar RCV Id:
RCV001998724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366071.1:p.Val1280Met
CA8945999
NM_001379142.1:c.3838G>A