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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001128716.1:p.[Gln467_Val468delinsArgTrp;Lys470_Asp474del;Ser477_Glu480delinsArgArgThrGln;Ser482_Asp485delinsAlaAlaAla;Glu487_Ala495delinsSerGlnThrValThrGluArgHisTrp;Gln496_Val497insPro] |
CA2573139298
NM_001135244.2:c.1399del
|