Canonical Allele Identifier: PA2827862980
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160216
ClinVar RCV Id: RCV000147877 RCV001850008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341434.1:p.Asn696Asp
CA173805
NM_001354505.1:c.2086A>G