ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827871346
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_001341470.1:p.Arg118Gly
CA294642
NM_001354541.2:c.352A>G