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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000340690.4:p.[Lys125_Ala129delinsArgThr;Phe131_Asn132delinsLeuGln;Arg135_Val137delinsMetThrSer;Arg139Leu;Gly141_Thr154delinsValGluValGluGluGlyLysAlaSerLeu] |
CA512318709
ENST00000344691.8:c.374del
|