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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000460666.3:p.[Thr487_Asp498delinsIle;Asp500_Arg503del;Ala505_Gly511del;Arg513_Gly516del;Arg518_Lys519del] |
CA2697555727
ENST00000561514.3:c.1456_1459dup
|