Canonical Allele Identifier: PA915953519
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000147881
ClinVar Variation:
160219
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000453.2:p.Tyr852His
CA333549
NM_000462.5:c.2554T>C