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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.[Gln1236delinsProVal;Ala1238delinsGlyCysGlyArg;Val1240Pro;Glu1242Gln;Leu1244delinsProGly;Ser1246Ala;Arg1248_Gln1250delinsTrpTrpHis;Pro1252del;Gly1254_Pro1256delinsArgArgArg;Asp1258_Gly1260delinsArg;Gly1264del;Ser1266del]
CA2580099997
ENST00000445220.5:c.3706dup