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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001304113.1:p.[Met246_Thr253delinsAsnGlyAspPhe;Gln255_Asp257delinsHisGly;Lys259_Gly269delinsArg;Val271_Met272del;Gly274_Ala275del] |
CA645596627
NM_001317184.2:c.736dup
|