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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_570712.1:p.[Val460_Ser464delinsHisSerGluProArgGly;Glu466_Glu471delinsGlyGlyArgGlyArgGly;Glu473_Trp476delinsValGlyArg;Glu478_Ala480delinsSerProGly;Glu482_Arg486delinsProAlaAla;Arg489_Arg490delinsThrAlaGly] |
CA2695214548
NM_130800.2:c.1378_1382del
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