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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489147.2:p.[Pro791_Pro792insArg;Gly793delinsArgGln;Asp795_Asn800delinsLeuArgGlnProGlyArg;Gly802_Ala806delinsGlnArgGlnProLeuArg;Leu808_Phe809delinsValGln;Pro811_Lys813delinsAlaAla;Arg816_Ser819delinsGluPro;Leu821_Val822delinsGly]
CA2657583362
ENST00000262795.7:c.2375_2376del