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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000513285.1:p.[Asp470delinsGluThrGln;Cys473delinsLeuProValIle;Ala475_Asp477delinsAsnAsnSer;Lys479Val;Phe481_Lys489delinsAlaAlaGlnGlnAsnHisIlePro;His491_Leu494delinsCysLysCys;Val496_Ser497delinsAla;Arg499del] |
CA2697555720
ENST00000697376.1:c.1408_1409dup
|