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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499475.1:p.[Pro224_Gly226delinsArg;Tyr229_Asp230delinsAlaPro;Val232Thr;Ser234_Ala242delinsCysAlaProAlaSerSerProAlaTrp;Leu244_Gly245delinsArgAlaTrp;Gly247Arg;Ala249_Tyr252delinsLeuProAlaCys]
CA2657583029
ENST00000664402.2:c.666del