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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000377979.2:p.[Val534_Leu545delinsCysHisCysTrpArgLeuLeuAsnLeuLysCys;Ala547_Tyr549delinsMetGln;Ser551_Ser556delinsMetIleAlaLeuPheGln;Trp558_Thr563delinsGlnLeuGlyGlySer] |
CA2523532293
ENST00000394466.6:c.1600del
|