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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.2:p.[Pro527Arg;Gly529_Gly530delinsGlnProArg;Phe532_Ala533delinsArgArg;Glu535_Ser537delinsGlnLeuArg;Thr539_Gly542delinsArgAlaLeuProAsp;Pro543dup;Arg544_Pro545insSerAla;Gly547_Ala552delinsTrpProArgLeuArgArg;Asp554_Gly555delinsArgTrpPro]
CA10581460
ENST00000445220.7:c.1562_1577dup