Canonical Allele Identifier: PA2827872213
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155986
ClinVar RCV Id: RCV000144309 RCV000622521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341471.1:p.Gly545Arg
CA333366
NM_001354542.2:c.1633G>A
CA391352988
NM_001354542.2:c.1633G>C