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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001193948.2:p.[Val234_Asp235delinsTrpMet;Ser237_Trp244delinsAlaThrTrpThrThr;Pro246Thr;Glu248_Thr250delinsLeuGlnGly;Arg252_Gln254delinsProProAla;Glu256_Gly263delinsAlaArgAlaArgThrAla] |
CA2576600317
NM_001207019.2:c.700del
|