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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001166937.1:p.[Arg467_Gln469delinsVal;Pro471_Gly477delinsAlaLeuPheMetThrCysPro;Ile479_Asp481del;Pro483del;Phe485_Ser489delinsArgHisProGln;Thr491_Ala493delinsLeu;Trp495_Pro497delinsLeuGlyThr;Pro499_Pro503delinsSerGlnGlyHisHis] |
CA2619037053
NM_001173466.2:c.1395_1419del
|