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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514708.1:p.[Cys216_Ser220delinsGlyMetHisArgTrpLys;Ser222_Ile223delinsGlnHis;Glu225_Ser229delinsGlyLysTyrArgLeuCys;Phe231_Arg238delinsTrpAlaGluAlaAlaSerGlnValSer;Phe241_His244delinsAsnAlaArg] |
CA916080369
ENST00000699953.1:c.641_644dup
|