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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000252444.6:p.[Cys478_Val481delinsLeuGlnGlyCys;Ser483_Tyr486delinsLeuHisArg;Phe488_Val495delinsProLeuLeuHisGlnProAla;Lys497_Leu500delinsGlyGlnGluAsp;Arg502_Ser503delinsAlaGlyPro;Tyr505_Ser507delinsArgValHisGln] |
CA10585336
ENST00000252444.10:c.1432dup
|