Canonical Allele Identifier: PA2828520480
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155988
ClinVar RCV Id: RCV000144311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361390.1:p.Glu584Gln
CA333372
NM_001374461.1:c.1750G>C