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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000510136.1:p.[His696_Ser716delinsPhePheTyrValProGlyAlaProAspSerSerArgIleValCysTyrGluPheAlaValLeu;Leu718_Leu719delinsIleVal;Val721_Gln724delinsThrCysThrVal] |
CA2580101494
ENST00000685264.1:c.2086_2087del
|