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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_570715.1:p.[Lys493_Pro497delinsGlnAlaArgGlyAla;Pro499_Lys507delinsAlaAlaGlnGluAlaSerThrGlyGln;Leu509Pro;Thr511_Gln513delinsHisArgPro;Ala515delinsCysSer;Ser517_Gly518delinsArgThr;Arg521_Lys522delinsGlu] |
CA2580615716
NM_130803.2:c.1476dup
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