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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001180395.1:p.[Val234_Glu238delinsCys;Pro240_Gln243delinsPheHis;Ser245_Pro250delinsThrAla;Asp253del;Ser255_Val261delinsArg;Leu263Gln] |
CA2499224671
NM_001193466.2:c.699dup
|