ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827875175
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160221
ClinVar RCV Id:
RCV000154106
RCV000147884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341476.1:p.Gly798Asp
CA235190
NM_001354547.2:c.2393G>A