Canonical Allele Identifier: PA2827873754
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144557
ClinVar Variation:
136206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341474.1:p.Leu283Trp
CA333487
NM_001354545.2:c.848T>G