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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000376601.3:p.[Pro242_Asp245delinsLeuProLeuLeu;Arg246_Gly247insPro;Tyr248_Arg250delinsLeuGlnAla;Thr252_Lys255delinsAspIleThr;His257_Asn265delinsGlyAlaHisGlnValProProArg;Asn268_Cys271del] |
CA2580063952
ENST00000392861.6:c.721_724dup
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