Canonical Allele Identifier: PA2827865217
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 160209
ClinVar RCV Id: RCV000147870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341438.1:p.Asp563Gly
CA333534
NM_001354509.2:c.1688A>G