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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001280120.1:p.[Glu178_Gly181delinsArgGlyAlaArg;His183_Arg186delinsProHisAla;Ala188_Leu195delinsTyrSerArgAspProAlaAlaAla;Gly197_Val198delinsAlaTrpArg;Arg200_Ala203delinsAlaLeuHisSerTrp;Ala205_Ile206delinsHisCys] |
CA2580063119
NM_001293191.2:c.530dup
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