Canonical Allele Identifier: PA2827866312
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 136207
ClinVar RCV Id: RCV000144558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341441.1:p.Pro458Leu
CA333490
NM_001354512.2:c.1373C>T