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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000009.1:p.[Leu515Thr;Ser517_Leu521delinsGlnArgProGlu;Gly523_His526delinsGlnArgThrCys;Glu528_Arg531delinsProGlyValGlu;Gly533_Leu535delinsGluTrpArg;Val537_Ala544delinsGlySerThrGlySerGlyAlaValCys] |
CA2580094830
NM_000018.4:c.1542_1543insA
|