HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000495.1:p.[Gly450_Phe458delinsArgAspLeuHisGlnGlyHisArg;Lys460_Ile462delinsProGlnVal;Ser465_Arg469delinsGlnValHisGluAsnGln;Pro472_Ala478delinsAlaGlnGlyGlnGluProCys] |
CA612868396
NM_000504.4:c.1347dup
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