HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001305898.1:p.[Lys194_Ala201delinsArgCysTyrTrpGlu;Leu203_Gly206delinsMetHis;Val208_Val212delinsTrpProThr;Thr214_Gln216del;Ala218_Ala223del] |
CA2699012260
NM_001318969.2:c.579del
|