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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000498912.2:p.[Val254Glu;His257_Thr264delinsSerGluThrSerThrGlyHisCysLeu;Val265_Ter266insGlnLeuLeuLys] |
CA2679533036
ENST00000651204.2:c.761_762del
|