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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000256993.5:p.[Asp506_Ala522delinsGluAlaGluThrProProAspHisGlnArgGlyHisAlaGlyGlyArg;His524_Tyr525del;Ser530_Ala536delinsValHis] |
CA1139661930
ENST00000256993.8:c.1518_1519del
|