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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000423168.1:p.[Thr49_His50delinsHisPro;Trp52_Ala53delinsValGlyArg;Ser55delinsPheValHisThr;Cys57delinsAspHisGlu;Thr58_Pro59insPheLeuSerLeu;Trp60_Phe65delinsGluHisValGlyHisSerLeuGlnSer] |
CA2580094127
ENST00000514934.1:c.144dup
|