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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000518.1:p.[Arg744del;Val746_Thr749delinsThrCys;Arg751_Leu752insHis;Gly754Ala;Thr756_Pro757delinsTrp;Leu759_Met767delinsHisProTrpAlaHisHisGlyGlyAsp;His769_Leu772delinsAspAsnValSerProSerSer] |
CA2697556242
NM_000527.5:c.2230dup
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