HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001361203.1:p.[Ser110_Arg114delinsArgArgArgCysVal;Ile116_Tyr126delinsSerArgArgSerLeuAlaCysHisLeuThrThr;His128_Phe136delinsThrAlaAlaProCysProArgArg;Val138Gln;Ala140Val] |
CA2695208950
NM_001374274.1:c.330del
|