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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000395535.2:p.[Thr172_Ser178delinsAsnTrpGlu;Arg180del;Gln182_Lys183del;Pro185_Lys187delinsLeu;Lys189_Lys192delinsAlaArg;Pro194_Gly195delinsGluThr;Gly197_Gly201del] |
CA2695202118
ENST00000453960.7:c.514dup
|