Canonical Allele Identifier: PA2827869543
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000202457
ClinVar Variation:
218318
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341467.1:p.Gly40Val
CA339616
NM_001354538.2:c.119G>T