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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000508681.1:p.[Cys185_Phe187delinsLeuThrLeu;Val189_Ser190delinsSerAla;Gln192_Thr214delinsSerSerSerThrProTrpProThrProSerTrpAlaGlnGlyProThrCysArgIleArgAsnGlyGln] |
CA2629083409
ENST00000684779.1:c.554del
|