HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000407645.1:p.[Val194_Arg200delinsGlyGlnLeuLeuArgIle;Thr202_Leu212delinsAlaHisArgGluGluCysLeuHisCysLeuTyr;Val214_Leu223delinsGlyCysGlyCysThrValProProPro] |
CA2840846318
ENST00000430508.1:c.580dup
|