HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000594.2:p.[Met514delinsAsnGlyGlu;Lys516_Thr528delinsSerGluGlyAspAsnProValTrpLeuArgAspArgPro;Arg530_Tyr534delinsProGluLeuArgThr;Gln536_Arg540delinsAlaGlyGluThr;Phe542_Arg543delinsPro] |
CA2579063487
NM_000603.4:c.1540dup
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