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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.1:p.[Pro969Arg;Gly971_Gly972delinsGlnProArg;Phe974_Ala975delinsArgArg;Glu977_Ser979delinsGlnLeuArg;Thr981_Gly984delinsArgAlaLeuProAsp;Pro985dup;Arg986_Pro987insSerAla;Gly989_Ala994delinsTrpProArgLeuArgArg;Asp996_Gly997delinsArgTrpPro]
CA10581460
ENST00000445220.5:c.2888_2903dup