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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.[Pro703delinsHisSer;Gly706_Gly708delinsArgAla;Ser710Arg;Thr712_Val714delinsProArgCys;Ser716_Ser719delinsAlaArgProGln;Lys721Ser;Ser723_Pro726delinsAlaValSerHis;Pro728_Ala729delinsLeu;Glu731Leu;Ser732_Ala733insLeu]
CA2657581347
ENST00000664402.2:c.2108del