Canonical Allele Identifier: PA2827871815
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 155992
ClinVar RCV Id: RCV000144315 RCV003389042 RCV002514772
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341470.1:p.Pro827Leu
CA333384
NM_001354541.2:c.2480C>T