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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499475.1:p.[Pro305_Pro306insArg;Gly307delinsArgGln;Asp309_Asn314delinsLeuArgGlnProGlyArg;Gly316_Ala320delinsGlnArgGlnProLeuArg;Leu322_Phe323delinsValGln;Pro325_Lys327delinsAlaAla;Arg330_Ser333delinsGluPro;Leu335_Val336delinsGly]
CA2657583362
ENST00000664402.2:c.917_918del