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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_570713.2:p.[Leu505_Lys507delinsThrGlyGln;Leu509Pro;Thr511_Gln513delinsHisArgPro;Ala515delinsCysSer;Ser517_Gly518delinsArgThr;Arg521_Ala531delinsGluAlaSerTrpAspCysArgTrpHisSerPro;Gly533del] |
CA2695214574
NM_130801.3:c.1512dup
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