HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000380851.1:p.[Ser433_Leu445delinsAlaValSerValProLeuThrLeuAlaGluThrVal;Val447_Gly449delinsSerLeuTrp;Gly452_Gly460delinsLeuGlnGluLeuAlaArgCysGlyAsn;Leu461_Pro462insAlaCys] |
CA2654977145
ENST00000397743.1:c.1294_1295dup
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