Canonical Allele Identifier: PA2827874505
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144312
ClinVar Variation:
155989
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341475.1:p.Thr617Ile
CA333375
NM_001354546.2:c.1850C>T