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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000514468.1:p.[Gln493Val;Ser495_Tyr512delinsLeu;Glu514del;Arg516_Lys522delinsAlaTrpHisHis] |
CA325605
ENST00000699599.1:c.1477_1478del
|