ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828810830
Gene: SETBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2727037
ClinVar RCV Id:
RCV003557063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366071.1:p.Asp1328Asn
CA402325620
NM_001379142.1:c.3982G>A