HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001745.2:p.[Ala83_His85delinsGlyArgPro;Glu88_Ser94delinsArgAlaGlyAlaHisArgGln;Asn96_Leu112delinsGlnLeuProLeuLeuArgAlaAlaTyrAlaLeuAlaLeuGlnGlnAspPro] |
CA2499225883
NM_001754.5:c.247dup
|