HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_478054.2:p.[Ala690_Ala698delinsGlyCysGlnGluProArgValAspCys;Gly700_Trp702delinsArgHisLeuAsp;Pro704Leu;Ala706_Lys716delinsProGlnValCysLeuArgProProHisGlnGly;Ser718_Arg719delinsPro] |
CA2654974008
NM_058174.3:c.2068dup
|