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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000446.1:p.[Asn226_Asp229delinsThrAlaTrp;Phe231Pro;Gly233_Trp239delinsProAlaSerArgTrpThr;Ala241del;Val243_Ile248delinsArgLeuGlySerProSer;Gly251_Tyr253delinsSerProArgValCysThr;Phe255Ser] |
CA2580096089
NM_000455.5:c.677del
|