HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000834.2:p.[Glu143del;Val145_Val146del;Val148_Val149delinsArgArg;Ala151_Leu164delinsArgArgGlyArgLeuGlyGlnLeuArgLeuHisHisGly;Leu166_Phe167delinsGlnArg;Ile169Ala;Gln171_Ile172delinsValCysAspThrProAsp] |
CA564560501
NM_000843.3:c.426dup
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