Canonical Allele Identifier: PA2827875791
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000008432
ClinVar Variation:
7968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341478.1:p.Thr106Pro
CA325625
NM_001354549.2:c.316A>C