ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827874722
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156623
ClinVar RCV Id:
RCV001704063
RCV001857494
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341476.1:p.Arg118Gly
CA294642
NM_001354547.2:c.352A>G