HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001305016.1:p.[Leu39_Ala44delinsArgArgTrpArgTrpArgTrpArgTrp;Ala46Cys;Ala48Thr;Ser50_Asp51delinsGlyPhe;Arg53_Val54delinsGly;Trp56_Pro63delinsArgGlnArgLeuThrLeuPhe;Ser65del;Gln67_Gly68delinsLysAla] |
CA597438128
NM_001318087.2:c.116del
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