Canonical Allele Identifier: PA2827875272
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000008433
ClinVar Variation:
7969
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341477.1:p.Ile130Thr
CA325628
NM_001354548.2:c.389T>C