HGVS (amino-acid) | Matching Registered Transcripts |
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NP_001010938.2:p.[Pro517_Pro518insArg;Asp519_Val523delinsProGluArgGlyThr;Leu525_Arg529delinsHisLeuProAla;Gln532_Gly535delinsAlaSerArgArg;Val537Glu;Arg539_Arg544delinsGlyAlaSerThrSer;Pro546_Pro548delinsThrSerAla] |
CA2669224585
NM_001010938.2:c.1553_1554del
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