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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489147.1:p.[Pro842_Gly844delinsArg;Tyr847_Asp848delinsAlaPro;Val850Thr;Ser852_Ala860delinsCysAlaProAlaSerSerProAlaTrp;Leu862_Gly863delinsArgAlaTrp;Gly865Arg;Ala867_Tyr870delinsLeuProAlaCys]
CA2657583029
ENST00000262795.5:c.2520del