HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000044.2:p.[Thr993_Val997delinsAsnGlyCysHisGly;Thr999delinsHisArg;Val1001_Ala1002delinsGlyArg;Gln1004_Lys1013delinsGluArgHisProHisGlnGlyArgGlnAla;Leu1015_Met1017delinsGlyAspGly;His1019_Ile1021delinsGlnAsp] |
CA2695218766
NM_000053.4:c.2977dup
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