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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000418212.1:p.[Asn216_Ser220delinsThrArg;Ser222_Glu223del;Ala225_Gln230delinsHisIleArg;Glu234_Pro236del;Ser238_Pro241delinsAsnPheThr;Gly243_Ala246delinsLys] |
CA002772
ENST00000487825.5:c.647_648del
|