HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000422567.2:p.[Ala451_Ala452delinsGlyLeu;Ala454_Arg457delinsGlnHisLeuLeuGly;Thr459Gln;Pro461_Val468delinsLeuGlnProProArgSerArgTrp;Lys470_Glu480delinsSerArgArgArgThrGlnGluAlaAlaAlaArg] |
CA2739289446
ENST00000513538.2:c.1350_1351dup
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