HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000199.2:p.[Phe1283_Pro1296delinsCysSerArgThrThrCysThrProAlaPheGlnArgCysArg;Phe1298_Val1301del;Phe1303_Glu1313delinsThrAlaArgArgThrArgLeuProArgValArg;Glu1315_Glu1318delinsTrpArg] |
CA645613083
NM_000208.4:c.3848_3866del
|