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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001135754.1:p.[Lys130delinsArgSerGluLeuGluIleGlySerGlnPro;Lys131_Ter132insGlu] |
CA210192356
NM_001142282.2:c.389del
|