Canonical Allele Identifier: PA2827874229
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136205
ClinVar RCV Id: RCV000144556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Leu198Pro
CA333484
NM_001354546.2:c.593T>C