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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000365402.5:p.[Thr249_Gln250delinsMet;Thr252_Thr257delinsProGlyHis;Pro259_Ala260delinsAlaCys;Gly263_Lys267delinsGlnAlaSerArgArg;Ala269_Val272delinsAsnLeuProGlu;Pro274Gly;Ser275_Gly276insCys;Gln277delinsGlyAlaPheTrpThrArg] |
CA2677950679
ENST00000376228.10:c.743_744insAATG
|