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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001365397.1:p.[Val459Ala;Gln461_Lys473delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp476_Asp479del;Val482_Thr488delinsTrp] |
CA2580077583
NM_001378468.1:c.1375_1376insC
|