Canonical Allele Identifier: PA2827872563
Gene: UBE3A HGNC NCBI
ClinVar RCV:
RCV000144555
ClinVar Variation:
136204
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341472.1:p.Asp212Val
CA333481
NM_001354543.2:c.635A>T