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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000509.1:p.[Val127_Ala136delinsGluSerGlyGlyTrpCys;Val138Ter] |
CA5839693
NM_000518.5:c.380_396del
|