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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514849.1:p.[Gln100_Met102delinsProLysTyr;Tyr104_Arg110del;Leu112del;Ser114_Glu115delinsLys;Glu117_Glu122delinsCysGlnLys;Leu125_Gln128delinsThrGlu] |
CA658824564
ENST00000700182.1:c.296dup
|