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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000486.1:p.[Pro1163_Glu1165delinsGlnAlaLys;Gly1167_Lys1168delinsAlaAsn;Gly1170_Pro1192delinsValLysMetValPheLeuAspGlnLeuAspArgArgValAsnGlnValAsnGlnAlaLeuGluThrGln] |
CA2580100161
NM_000495.4:c.3488del
|