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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000039.2:p.[Leu123_Met125delinsCysGlyCysGly;Gln127_Cys129delinsProAlaProArg;Thr131_Leu132delinsArgAla;Gly134_Asp145delinsSerGlySerSerLeuGlyProTrpTrpIleGlyGln;Ala147_Asp152delinsArgAsnValMet] |
CA2578899898
NM_000048.4:c.367del
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