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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512382.1:p.[His240_Asn246delinsGlnAlaLeu;His249_Ala252del;Ala254_Thr256delinsMetGluHis;Thr258_Glu261delinsTrpMetGlnGly;His263_Asp270del] |
CA2701561852
ENST00000696087.1:c.720del
|