HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001263988.1:p.[Lys416_Asp425delinsCysGlnCysArgArgLeuMetMetThr;Phe427_Ser430delinsSerGlnValLeu;Glu432_Gly446delinsLysLysLeuLysLeuLeuLeu] |
CA2739265353
NM_001277059.2:c.1246_1249del
|