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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000478443.1:p.[His463_Gln477delinsThrMetLysAspThrHisValProAlaSerMetGluThrValLeu;Asp479_Arg480delinsGlyIle;Glu482_Gly490delinsLysArgProPheThrSerSerAlaGlnGlu] |
CA319634
ENST00000478993.5:c.1384_1385dup
|