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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000509.1:p.[Val99_Phe104delinsAla;Leu106_Leu107del;Asn109_Leu115delinsSer;His117_Gln128del;Ala130del] |
CA913190234
NM_000518.5:c.292_295dup
|