HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000363973.3:p.[Val434_Pro448delinsArgMetSerProTrpTrpThrMetLeuThrThrThrThrArgArgSer;Arg450_Glu452delinsLeuCysProCysAla;His454_Phe462delinsArgProThrAlaGlyArgThrTrpProSer] |
CA2573130582
ENST00000374840.8:c.1286_1299dup
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