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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000018.2:p.[Asp174_Pro175delinsArg;Lys177_Tyr182delinsLeu;Pro184_Ile187delinsIleLeuArgThr;Lys189del;Asp191_His195delinsThrThrTrpTyrLeu;Glu197_Gly203delinsAlaGlyTyrSerTyrPro] |
CA2573138199
NM_000027.3:c.519dup
|