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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000307423.2:p.[His232_His239delinsThrSerLeuValValGluAlaAla;Phe240_Val241insCys;Trp242_Leu248delinsGlyLysSerGluAsnSerSer;Asp250_Leu256delinsLeuCysTrpProTyrThr;Leu258_Asp261delinsProArgArgGly] |
CA486349772
ENST00000305386.4:c.693dup
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