Canonical Allele Identifier: PA2828520636
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147881
ClinVar Variation:
160219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Tyr829His
CA333549
NM_001374461.1:c.2485T>C