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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001350074.1:p.[Arg483_Ser495delinsAlaAlaGluProCysThrValProGlyGlyAlaValArg;Arg497_Asn503delinsAlaAlaGlyProGlyGluGln;Leu505Val;Ala507del;Gln509_Ser510delinsAlaVal;Pro511_Ter512insLeuArg] |
CA2579271875
NM_001363145.1:c.1447_1448del
|