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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000143.2:p.[His199_Ser206delinsAlaCysProGlnProGlyThrVal;Pro207_Leu208insThr;Tyr209_Phe218delinsGlnArgGlyValLeuArgGlyAlaLeuArg;Val220_Asp227delinsAspArgAlaProAlaAlaGlyArg] |
CA2965194681
NM_000152.5:c.593dup
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