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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000391478.2:p.[Arg213_Val218delinsAspIleValTrpTrpCys;Tyr220_Met237delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn239_Cys242delinsValThrValPro] |
CA248848
ENST00000445888.6:c.636del
|