HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001335142.1:p.[Ala230_Gly247delinsLeuPheGlyLeuGluMetGluAspArgProHisArgLeuLeuIleMetLysAsp;Leu249_Ser251delinsTyrThr;Gln253_Arg259delinsCysLysAlaGluLeuLysIle] |
CA2695223156
NM_001348213.2:c.687del
|