Canonical Allele Identifier: PA2827874438
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147868
ClinVar Variation:
160207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Gly506Glu
CA333528
NM_001354546.2:c.1517G>A