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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.[Pro394_Gly396delinsArg;Tyr399_Asp400delinsAlaPro;Val402Thr;Ser404_Ala412delinsCysAlaProAlaSerSerProAlaTrp;Leu414_Gly415delinsArgAlaTrp;Gly417Arg;Ala419_Tyr422delinsLeuProAlaCys]
CA2657583029
ENST00000445220.7:c.1176del