HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001257377.1:p.[His217Met;Pro220_Val246delinsLeuArgArgArgTrpAlaSerArgLeuGlnThrGlnGlnArgCysSerLeuMetGluTyrGlyCysHisArgArgThrCys] |
CA2697557229
NM_001270448.2:c.649del
|