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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514626.1:p.[His665_Asn668delinsProSerProThrTrpValSerPhe;Gly670_Ile672delinsArgThrAspArg;Gln674_Asn675delinsHisCysMetGlu] |
CA2580076749
ENST00000699825.1:c.1994del
|