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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000453513.2:p.[Trp493del;Asp495_Gly497delinsGlyLeu;Pro499_Lys504del;Gly506Glu;Asn508_Tyr513delinsProProArg;Leu515_Trp522delinsArgLysGlyAla] |
CA891844317
ENST00000560467.2:c.1475_1476dup
|