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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000502091.1:p.[Gln517_Thr534delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu536_Ser543delinsArgLeuProLeuGlnGlnLeuGly;Asp545_Pro546delinsProArg] |
CA2580611220
ENST00000676385.2:c.1549_1550del
|