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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000453513.2:p.[Lys223_Cys236del;Pro238_Phe241delinsLeu;Cys243_Asp245del;Asn247_Cys248delinsGln;His250_Ser252del] |
CA16602304
ENST00000560467.2:c.660_666dup
|