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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000301948.6:p.[Lys175_Gly185del;Gly187_Gly195delinsLeu;Thr197_Arg198del;Lys200_Ser204delinsGln;Val207_Ser216delinsAla;Gly218_Met224del;Phe226_Ser229del;Gly231_Thr241del;Thr243_Arg250del;Gly252_Asp260del;Gln262_Val300del;Pro302_Lys305del;Lys307_Thr311del;Ser313_Lys321del;Leu323_Glu330del;Ser332del;Lys334_Ser341del;Gly343del;Lys345_Ser357delinsAlaThr;Ser359_Ser360del;Pro362_Ser375delinsThr;Lys377del;Val380_Pro388del] |