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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000401385.1:p.[Cys46_Met58delinsLeuLeuGlnProGlnAspValGlyLeuLeuCysAlaAsp;Cys60_Ile61delinsValHis;Ser63_Ala75delinsLeuGlyAsnCysGluLeuHisArgLeuGlnGluGluArg] |
CA340285
ENST00000442311.1:c.135dup
|