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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.[Pro475_Pro476insArg;Gly477delinsArgGln;Asp479_Asn484delinsLeuArgGlnProGlyArg;Gly486_Ala490delinsGlnArgGlnProLeuArg;Leu492_Phe493delinsValGln;Pro495_Lys497delinsAlaAla;Arg500_Ser503delinsGluPro;Leu505_Val506delinsGly]
CA2657583362
ENST00000445220.7:c.1427_1428del