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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_000572.2:p.Leu48_Ter49insCysGlyThrThrValArgAspTyrThrGlnMetAsnGluLeuGlnArgArgLeuGlyProArgGlyLeuValValLeuGlyPheProCysAsnGlnPheGlyHisGlnGluAsnAlaLysAsnGluGluIleLeuAsnSerLeuLysTyrValArgProGlyGlyGlyPheGluProAsnPheMetLeuPheGluLysCysGluValAsnGlyAlaGlyAlaHisProLeuPheAlaPheLeuArgGluAlaLeuProAlaProSerAspAspAlaThrAlaLeuMetThrAspProLysLeuIleThrTrpSerProValCysArgAsnAspValAlaTrpAsnPheGluLysPheLeuValGlyProAspGlyValProLeuArgArgTyrSerArgArgPheGlnThrIleAspIleGluProAspIleGluAlaLeuLeuSerGlnGlyProSerCysAla |
CA352783341
NM_000581.4:c.147A>T
CA352783343
NM_000581.4:c.147A>C
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