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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514695.2:p.[His816_Asn819delinsProSerProThrTrpValSerPhe;Gly821_Ile823delinsArgThrAspArg;Gln825_Asn826delinsHisCysMetGlu] |
CA2580076749
ENST00000699930.2:c.2447del
|