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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000516071.1:p.[Ser42_Ser46delinsLysTrpThrGln;Ala48Pro;Ala50_Pro51delinsGly;Leu53_Ser58delinsProPhePhe;Gly61_Val64del;Lys66_Lys69del] |
CA2578796152
ENST00000705168.1:c.117dup
|