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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000438039.1:p.[Leu228_Ser230delinsIleGln;Pro232_Asp237del;Tyr239_Gly240delinsSer;Gln242_Lys243delinsLeuTrp;Val245_Lys250delinsCysMetAlaProArgArg] |
CA1028585688
ENST00000492433.1:c.682_685del
|