Canonical Allele Identifier: PA2830185117
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144558
ClinVar Variation:
136207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_570854.1:p.Pro478Leu
CA333490
NM_130839.2:c.1433C>T