HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000045.1:p.[Lys367_Thr369delinsArgThrLeuHisArgGluGluLeuLeuGlyValLeuProLeuGluAlaLeuArg;Ser371_Ter372insAlaAlaPheLeuGlyLeuValLeuGly] |
CA2579733578
NM_000054.7:c.1098del
|