HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001350457.1:p.[Arg1685His;Arg1687_Glu1691delinsAlaAlaProPro;Ala1693_Ser1698delinsAspLeuArgGlySerArg;Pro1700del;Val1702_Pro1704delinsGlnProGln;Ser1706_His1707delinsThr;Lys1709Gly;Ala1712_Gln1713delinsSerValPro] |
CA2631118696
NM_001363528.2:c.5039_5051dup
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