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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000531.2:p.[Val4831_Val4842delinsCysHisProGlnTrpGluThrAlaGlyAspAspArg;Leu4844_Phe4860delinsProSerGlyGlyGlyArgLeuProValHisArgGlyGlyLeuGlnLeuLeu] |
CA2573054762
NM_000540.3:c.14490dup
|