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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000109.1:p.[Leu107_Glu129delinsCysIleSerArgProTrpGluSerHisCysThrTrpProThrIleProAlaTrpSerProSerLysSer;Pro131Arg;Val133_Thr136delinsSerThrProGln] |
CA2695211339
NM_000118.3:c.319del
|