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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000470.3:p.[Ser540_Arg543delinsAlaThrGlyValValAsnAlaPheAlaLysLeuProAlaPro;Ser545Gln;His547_His548delinsPheValGlyAlaLeuAlaAla;Pro550_Met552delinsAlaThrValArg;Val553_Ala554insGlyLeuMet;Ala554_Thr555insAlaLysAlaAlaAlaArgArgSerAlaSerAlaArg;Glu556Thr;Cys557_Gly558insProThrTrpTrpProProSerValAlaAla;Gly558_Cys559insAspPro;Cys559_Arg560insAlaAla;Arg560_Ter561insThrPro] |