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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000290378.4:p.[Lys63dup;Gly65_Met84delinsHisProAspProGluValSerHisArgAlaTrpTyrHisHisGlnLeuGlyArgHisGly;Lys86_His89delinsAspLeuAlaPro;Thr91_Tyr93delinsLeuLeu] |
CA2730707295
ENST00000290378.6:c.190dup
|