Canonical Allele Identifier: PA915953260
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_000453.2:p.Glu607Gln
CA333372
NM_000462.5:c.1819G>C