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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.[Gly547_Gly551delinsAlaSerThrThr;Gly553_Leu558delinsArgAlaMet;Phe560Arg;Gly562_Pro565delinsSerArgSerAla;Lys567_Asp568delinsArgAla;Arg569_Arg570insPro;Leu571_Arg574delinsThrGlyGlyTrp;Arg576delinsSerGlyAlaAla]
CA2657583413
ENST00000445220.7:c.1640del