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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000312.2:p.[Ser508_Asp511del;Ser513_Trp516delinsGluGln;Leu518_Val520delinsCys;Asn522_Ala525delinsSerHisGly;Asp527_Lys537del] |
CA2831039872
NM_000321.3:c.1522del
|