Canonical Allele Identifier: PA2827870514
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147873
ClinVar Variation:
160212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341468.1:p.Gln588Arg
CA333539
NM_001354539.2:c.1763A>G