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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512434.1:p.[Cys174_Glu186delinsAlaValValTrpPheGlnLeuArgSerThrSerArgArgArg;Glu188_Glu189delinsArgAlaGlyTrp;Met192_Glu193delinsAsn] |
CA2580068444
ENST00000696142.1:c.520del
|