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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001373068.1:p.[Val53del;Ala56_Ala64del;Lys66_Ser72del;Gln74_Val89del;Ile91_Val102del;Thr104_Ser118del;Gly120_Lys226del;Lys228_Arg230del;Glu232Ter] |