HGVS (amino-acid) | Matching Registered Transcripts |
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NP_006436.3:p.[Phe2317delinsCysSerPro;Ala2318_Leu2319insGlyGlyGlyGly;Gln2321_Glu2322delinsCysGlySer;Glu2324delinsGlyPro;Tyr2326_Tyr2334delinsCysLeuThrValSerLeuProProAlaSer;Ala2335_Ter2336insSerArg] |
CA2695224073
NM_006445.4:c.6950_6951del
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