HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000243964.4:p.[Glu1002Gly;Val1004_Lys1012delinsGlyArgGlnIleArgArgArgCysIle;Val1014_Ser1022delinsProGlyProArgThrSerArgTrpGlnArgArgIleArgAla;Ser1025Leu;Glu1027_Asp1031delinsProLeuArgAlaSerArgThr] |
CA2653126542
ENST00000243964.7:c.2985_3004dup
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