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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_742054.1:p.[Ala575Arg;Pro577_Arg580delinsGlnGlyArgValAla;Arg582_Pro583delinsAlaGlyArg;Pro586_Trp587delinsArgGly;Glu589_Gly594delinsArgAlaArgProValAla;Ser596_Glu602delinsProAlaLeuArgAlaValArg] |
CA305505
NM_172057.3:c.1714_1718dup
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