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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.[Leu505_Glu516delinsProGlyGluAlaAlaAlaGlyGlyGly;Ala519_Leu520delinsGly;Val522Arg;Ser524del;Pro527Arg;Gly529_Gly530delinsGlnProArg;Phe532_Ala533delinsArgArg;Arg534_Glu535insGlnLeuArgPro]
CA2657583382
ENST00000445220.7:c.1513dup