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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001191193.1:p.[Thr227_Ala243delinsAlaGlnHisValArgArgAlaAlaSerAspCysSerSerGluMetGly;Ala245_Gly248delinsGlyAsnThrArg;Arg250_Asn251delinsGlnGlu;His253_Asp256delinsThrProGly] |
CA2566058745
NM_001204264.2:c.678_679del
|