Canonical Allele Identifier: PA2827872487
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144317
ClinVar Variation:
155994
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341472.1:p.Thr106Lys
CA333390
NM_001354543.2:c.317C>A