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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.[Pro320_Ala321insCys;Pro323_Pro326delinsArgThrAlaAla;Arg328del;Lys331_Val338delinsGluAlaGluThrLeuGlnArgArg;Gly340_Lys347delinsArgProGlnValHisArgArgGluGly;His349Gln]
CA2657598510
ENST00000262795.7:c.959dup