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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000395496.2:p.[Pro243_Asp246delinsLeuProLeuLeu;Arg247_Gly248insPro;Tyr249_Arg251delinsLeuGlnAla;Thr253_Lys256delinsAspIleThr;His258_Asn266delinsGlyAlaHisGlnValProProArg;Asn269_Cys272del] |
CA2580063952
ENST00000427902.5:c.724_727dup
|