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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000489669.1:p.[Arg217_Val223delinsPro;Glu225_His232delinsCysCysSer;Gly234_Pro239delinsTrpLeuArg;Gly241del;Pro243del;Gln245_Pro246del] |
CA7994561
ENST00000636619.1:c.648_649dup
|