Canonical Allele Identifier: PA2827872790
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147868
ClinVar Variation:
160207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341472.1:p.Gly545Glu
CA333528
NM_001354543.2:c.1634G>A