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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001341833.1:p.[Asn476del;Ala478_Asp479delinsLeu;Cys481_Ala482delinsTyr;Asp484_Ala486del;Ala488_Arg497del;Gln499_Ser508del] |
CA2582341324
NM_001354904.2:c.1428_1431del
|