Canonical Allele Identifier: PA2827875678
Gene: UBE3A HGNC NCBI

Linked Data

ClinVar Variation Id: 2175282
ClinVar RCV Id: RCV002579107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341477.1:p.Met750Leu
CA391351010
NM_001354548.2:c.2248A>T
CA391351013
NM_001354548.2:c.2248A>C