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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000345708.4:p.[Glu227Arg;Glu229_Ile238delinsArgGlyGlyAlaProProProGlyGlyHis;Met240_Val244delinsHisGlyGluArgArg;Gly246_Ala253delinsTrpGlnGlnHisLeuProGlyGly;Leu255_Ile256delinsAlaAsp] |
CA3003288919
ENST00000339994.5:c.678dup
|