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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001029031.1:p.[Thr172Ser;Gln175_Leu180delinsSerCysSerLeuAlaGlnArg;Pro181_Lys182insArg;Leu183_Cys193delinsLysAsnThrSerProSerTrpHisLeuGlyArg;Thr195_Glu196delinsTrp;Ser198Leu;Gly200_Ser201delinsVal] |
CA2635781252
NM_001033859.2:c.491_513dup
|