Canonical Allele Identifier: PA2827874230
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144318
ClinVar Variation:
155995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Leu198His
CA333393
NM_001354546.2:c.593T>A