HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Trp6_Ala13delinsLeuGluIleAlaLeuAspArgArg;Leu15_Ala19delinsAlaProArgArgGly;Thr21_Val23delinsAspCysSer;Asp25del;Cys27_Glu28delinsGlnMet;Asn30_Gln35delinsLysLysArgValProValPro] |
CA2497030074
NM_000527.5:c.16dup
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