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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000499133.1:p.[Lys250_Lys262delinsAsnGluAlaHisLeuSerGlnLeuHisHisArgAlaLeuGlnGly;Trp264_Gly268delinsGlyGlnValArgThr;Thr270_Lys279delinsLeuLeuGlnValLeuGlyGlyAspGluGlu] |
CA658774050
ENST00000651386.1:c.746_749dup
|