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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000320.1:p.[Pro493_Gln497delinsArgSerArgThr;Pro499del;Tyr501Cys;Leu503_Lys508delinsSerPro;Leu510del;Val513_Pro523delinsCysGlnGlyLeuLys] |
CA2519785152
NM_000329.3:c.1478_1479del
|