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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000502814.1:p.[Arg474_Ala475delinsCys;Lys477_Lys484delinsSerHisGlnSer;Leu486_Lys490del;Val492_Pro499delinsCys;Lys501_Ala503del] |
CA2552725304
ENST00000674807.1:c.1416_1419dup
|