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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000293780.4:p.[Cys490_Ile491delinsValSerSerLeuSerSerHisArgLeu;Gln492_Pro493insPhe;Pro493_Ter494insThrHisLeuGln] |
CA2635577445
ENST00000293780.4:c.1468del
|