HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001119590.1:p.[Thr172Leu;Arg174_Val179delinsAspIleValTrpTrpCys;Tyr181_Ser201delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrVal] |
CA497925310
NM_001126118.1:c.514del
|