Canonical Allele Identifier: PA2827865160
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144558
ClinVar Variation:
136207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341438.1:p.Pro458Leu
CA333490
NM_001354509.2:c.1373C>T