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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512716.1:p.[Gln120del;Met122_Asp126delinsHisProProGluHis;Gly128_Gly131del;Leu134Arg;His137_Tyr140delinsAlaGlyArg;Tyr142_Ile148delinsProProProArg] |
CA2677956905
ENST00000696558.1:c.348_357dup
|