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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000500264.1:p.[Ser417del;Ser419_Met423delinsAlaAlaAla;Ile425del;Val427_Ala446del] |
CA2580615879
ENST00000671824.1:c.1249_1250dup
|