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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000497646.1:p.[Arg1038_Asp1053delinsAsnSerPheTrpProThrLeuValLysMetAspLeuIleLeuIle;Cys1055_Cys1067delinsValArgAsnThrGlnMetPheLeuValIleIleAlaVal] |
CA2195297318
ENST00000648453.1:c.3113_3116del
|