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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001116079.1:p.[Phe131_Asp133del;Arg135_Arg139delinsMetThr;Arg142_Lys144delinsLeu;Phe146_Thr151delinsValGlu;Phe153_Thr161delinsGluGluGlyLysAlaSerLeu] |
CA512318681
NM_001122607.2:c.393del
|