Canonical Allele Identifier: PA2827862696
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144556
ClinVar Variation:
136205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341434.1:p.Leu257Pro
CA333484
NM_001354505.1:c.770T>C