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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000453346.1:p.[His117_Ser123delinsArgArgValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Cys134delinsHis;Asp136_Gly137del;Asp139_Glu140del;Ser142_Val145delinsValArg] |
CA2580096410
ENST00000558013.5:c.334_349dup
|