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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000519.2:p.[His350_Thr355delinsProCysSerLeuLeuHis;Ala357_Tyr359delinsArgLeu;Trp361_Glu362delinsPro;Asn364_Lys365delinsGly;Asn367_Lys373delinsGluGlnGlyGlnPro;Asp375_Pro379delinsLeuValSerGluThr] |
CA2499225375
NM_000528.4:c.1048dup
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