HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001840.3:p.[Ala690_Ala698delinsGlyCysGlnGluProArgValAspCys;Gly700_Trp702delinsArgHisLeuAsp;Pro704Leu;Ala706_Lys716delinsProGlnValCysLeuArgProProHisGlnGly;Ser718_Arg719delinsPro] |
CA2654974008
NM_001849.4:c.2068dup
|