Canonical Allele Identifier: PA2827873945
Gene: UBE3A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341474.1:p.Gly565Arg
CA333366
NM_001354545.2:c.1693G>A
CA391352988
NM_001354545.2:c.1693G>C