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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000536.6:p.[Glu228_Arg238delinsGly;Glu240_Gln243del;Gly245_Val246delinsAspAla;Pro248_Gln252del;Leu254del;Ser256_Asn257delinsValGln] |
CA2580611120
NM_000545.8:c.682dup
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