Canonical Allele Identifier: PA2827873158
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144318
ClinVar Variation:
155995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341473.1:p.Leu237His
CA333393
NM_001354544.2:c.710T>A