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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001355073.1:p.[Leu330delinsProAla;His332delinsLeuGln;Ser334_Gln340delinsHisProGlnAspAlaAlaPhe;Phe342_Gln347delinsSerAlaAlaAlaAla;Arg349del;Met351Asp;Ala353_Ser355delinsGlyProGln;Gln358_Ser359delinsProGlu] |
CA566693940
NM_001368144.1:c.988dup
|