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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.[Pro473_Pro475delinsArgGlyArg;Gly477Ala;Asp479_Ser480delinsThrAla;Tyr482_Gly486delinsThrProThrTrp;Phe488Pro;Ala490_Ser491insProAla;Leu492_Ala494delinsSerLeuArg;Lys497_Arg500delinsArgSerAlaAla;Lys502del]
CA1139667199
ENST00000445220.7:c.1418del