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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000494952.1:p.[His517_Gln531delinsThrMetLysAspThrHisValProAlaSerMetGluThrValLeu;Asp533_Arg534delinsGlyIle;Glu536_Gly544delinsLysArgProPheThrSerSerAlaGlnGlu] |
CA319634
ENST00000644109.1:c.1546_1547dup
|