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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000501606.1:p.[Leu2330Ser;Leu2332del;Thr2335_Cys2341delinsIleHisArgMetSerGlu;Asn2343Leu;Trp2344_Leu2345insGln;Ala2346_Cys2349delinsValSerArgAsnVal;Glu2351_Thr2359delinsArgLysSerCysGlyHisHisAlaAsp] |
CA2695215480
ENST00000675843.1:c.6987_6988insT
|