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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000334611.7:p.[Asn100delinsLysLeu;Ile102_Asn104delinsGlnGluProSerSer;Val106_Val107delinsThrAspSer;Leu109_Glu112delinsGlyArgTrpCys;Asp114_Asp119delinsSerArgCysHisTyrGly;Ile121_Met122delinsPro;Phe124_Phe126del;Ser128_Thr129delinsLeuTyr] |
CA2939720
ENST00000334830.11:c.299dup
|