HGVS (amino-acid) | Matching Registered Transcripts |
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NP_000016.1:p.[Val263Trp;Thr265_Pro268delinsArgAlaLeuArg;Glu270Lys;Val272Cys;Pro273dup;Cys275Ala;Arg277_Arg278delinsGly;Ala280del;Leu282_Pro284delinsAlaSerCys;Arg286_Leu291delinsSerGlyAsnThrGlyPro;Cys292_Thr293insAla] |
CA2968109773
NM_000025.3:c.787del
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