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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001119584.1:p.[Val218Cys;Tyr220_Met237delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn239_Asn247delinsValThrValProAlaTrpAlaAla] |
CA497925291
NM_001126112.3:c.652del
|