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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000320.1:p.[Tyr501_Leu503del;Leu505_Lys508delinsSerPro;Leu510del;Val513_His527delinsCysGln;Phe530Lys] |
CA645525123
NM_000329.3:c.1500_1501insA
|