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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000513286.1:p.[Arg221Lys;Ser223_Ala228delinsIle;Asp230Leu;Cys232_Glu233del;Leu235_Thr238del;Ser240_Ser242del;Val244_Asn245del;Lys248_Glu250delinsLeu] |
CA658683909
ENST00000697377.1:c.661dup
|