HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001257377.1:p.[Phe235_Asp237delinsSerLeuMetGluTyr;Val239_Asn245delinsCysHisArgArgThrCysTrp;Val246_Leu247insArg;Glu249del;Gly251Ala;Gly253_Gly264delinsArgLeuProCysThrSerSerThrMetGlu] |
CA8337906
NM_001270448.2:c.704del
|