HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000439827.2:p.[Ala230_Gly247delinsLeuPheGlyLeuGluMetGluAspArgProHisArgLeuLeuIleMetLysAsp;Leu249_Ser251delinsTyrThr;Gln253_Arg259delinsCysLysAlaGluLeuLysIle] |
CA2695223156
ENST00000537856.7:c.687del
|