HGVS (amino-acid) | Matching Registered Transcripts |
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XP_016873259.1:p.[Lys488_Pro492delinsGlnAlaArgGlyAla;Pro494_Lys502delinsAlaAlaGlnGluAlaSerThrGlyGln;Leu504Pro;Thr506_Gln508delinsHisArgPro;Ala510delinsCysSer;Ser512_Gly513delinsArgThr;Arg516_Lys517delinsGlu] |
CA2580615716
XM_017017770.2:c.1461dup
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