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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000460666.3:p.[Arg518_Ser520delinsGluAsnGlnPro;Cys522_Asp527delinsProGlnHisGlnIleIleValAsn;Cys529_Pro531delinsPheCysGln;Pro534_Ser537delinsAlaCysArgLeu;Ser539_Asn542delinsThrGlyPro;Ser544Lys;Glu546_Glu547del] |
CA164708
ENST00000561514.3:c.1552del
|