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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000417148.1:p.[Ser345_Glu348del;Val350_Gln354delinsHisIleArg;Ser357_Pro360del;Ser362_Pro365delinsAsnPheThr;Gly367_Asp371del;Phe373_Glu374del] |
CA10589669
ENST00000468300.5:c.1033dup
|