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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000169.1:p.[Tyr339del;Asp342_Val343delinsLeuThr;Glu345_Glu346delinsCys;Asp348_Glu368del] |
CA2652574738
NM_000178.2:c.1012_1015dup
|