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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000252444.6:p.[His474_Val481delinsProHisGluGlyLeuGlnGlyCys;Ser483_Tyr486delinsLeuHisArg;Phe488_Val495delinsProLeuLeuHisGlnProAla;Lys497_Leu500delinsGlyGlnGluAsp;Arg502_Ser503delinsAlaGlyProGlu] |
CA645373249
ENST00000252444.10:c.1420dup
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