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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.1:p.[Leu947_Glu958delinsProGlyGluAlaAlaAlaGlyGlyGly;Ala961_Leu962delinsGly;Val964Arg;Ser966del;Pro969Arg;Gly971_Gly972delinsGlnProArg;Phe974_Ala975delinsArgArg;Arg976_Glu977insGlnLeuArgPro]
CA2657583382
ENST00000445220.5:c.2839dup