HGVS (amino-acid) | Matching Registered Transcripts |
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NP_000392.3:p.[Leu389_Trp391delinsThrTrpThr;Arg393Gln;Ser395Asn;Val397_Met403del;Asp405_Val406delinsCysPhe;Ser408_Ser412delinsProHis;Pro414_Ile418delinsHisLysAla] |
CA2791245894
NM_000401.3:c.1164_1165insACATGGACAAAGCAGGCAAATGTATCTTGCTTTTA...
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