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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000421100.1:p.[Cys48_Tyr55delinsPheLeuLeuArgGlyGlyGlySer;Thr57_Leu61delinsCysAspPro;Val63_Ser67delinsProAlaGlnArgArg;Leu69_Ile72delinsAlaGlnGlnPro;Trp74_Ser77delinsGlnHisCysValVal;Pro78_Ile79insGlnPro] |
CA810004060
ENST00000509381.1:c.139_142dup
|