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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000496781.1:p.[Glu117_Glu132delinsGlyValSerProGlyAlaSerSerGluSerIleThrLeuPro;Glu134_Gly139delinsArgThrArgThrIle;Pro141_Arg145del] |
CA2707464478
ENST00000647947.1:c.347dup
|