ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916053504
Gene: UBE3B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50237
ClinVar RCV Id:
RCV000043490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_904324.1:p.Gln727Pro
CA143719
NM_183415.3:c.2180A>C