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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000379491.3:p.[Asn97delinsLysLeu;Ile99_Asn101delinsGlnGluProSerSer;Val103_Val104delinsThrAspSer;Leu106_Glu109delinsGlyArgTrpCys;Asp111_Asp116delinsSerArgCysHisTyrGly;Ile118_Met119delinsPro;Phe121_Phe123del;Ser125_Thr126delinsLeuTyr] |
CA2939720
ENST00000396188.3:c.290dup
|