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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000443964.1:p.[Thr217_Trp219delinsValCysGln;Trp221_Thr222delinsAlaGln;Thr224_Gly226delinsArgSerLeu;Pro228Ala;Gln229_Gly230insAla;Gln231_Ala232delinsHisGlyHisValGln;Asp234_Leu235delinsAlaProPro;Cys237delinsAlaArg;Leu239Gly;Thr240_Ala241insCys;Pro242delinsAlaArgSerGln;Ala244_Cys245delinsProTrpProAla] |
CA645588000
ENST00000538646.5:c.613_647dup
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