HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000455179.1:p.[Ala230_Gly247delinsLeuPheGlyLeuGluMetGluAspArgProHisArgLeuLeuIleMetLysAsp;Leu249_Ser251delinsTyrThr;Gln253_Arg259delinsCysLysAlaGluLeuLysIle] |
CA2695223156
ENST00000561992.5:c.687del
|