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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000518.1:p.[Gln125_Glu140delinsHisValThrGlnThrGlyThrAlaTrpThrAlaGlnThrArgProPro;Ser142Arg;Cys143_Pro144insSer;Leu146_Gly149delinsValPro;Phe153_Ser157delinsSerAlaThr] |
CA2582473458
NM_000527.5:c.375_381del
|