HGVS (amino-acid) | Matching Registered Transcripts |
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ENSP00000377901.3:p.[Ala462_Trp468delinsArgProArgProArgSerArg;Glu470_Glu471del;Glu474delinsLysPro;Arg476_Arg478delinsLysAlaGly;Pro480_Lys485delinsGlyAlaHisGlyGlySer;Glu487_Pro489delinsSerGlnArgSer;Pro490_Pro491insArg] |
CA2499221141
ENST00000394376.7:c.1382_1383insTC
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