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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000489700.1:p.[Cys548_Val549insGlyLeuIleAlaArg;Phe550delinsTrpHisThrGln;Cys552delinsIleGlnGluValIleLeuGluLysThrAsnGlu] |
CA2679104421
ENST00000637263.1:c.1646del
|