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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000518.1:p.[Cys82_Pro105delinsLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArgLeuSer;Lys107_Ser110delinsGlnAspValLeuPro] |
CA10584804
NM_000527.5:c.242dup
|