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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000470335.1:p.[Arg48_Val53delinsProCysHis;Glu55_Glu57delinsProGly;Phe59_Ala62delinsGly;Pro64_Asp74delinsArgGlyIle;Ala76_Pro78del] |
CA2580097431
ENST00000600005.5:c.142dup
|