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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000460543.1:p.[Pro194Ala;Glu196_Thr197delinsGlyAsp;His199_Ser206delinsAlaCysProGlnProGlyThrVal;Pro207_Leu208insThr;Tyr209_Phe218delinsGlnArgGlyValLeuArgGlyAlaLeuArg;Val220_Arg223delinsAspArgAla] |
CA2576660839
ENST00000570803.5:c.579dup
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