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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000380903.1:p.Gln489_Phe518delinsGlySerGlyCysArgGlyMetThrSerSerSerArgGlnTrpProThrValProCysThrSerProMetCysArgArgTrpThrTrpAla |
CA2575016106
ENST00000397801.6:c.1463_1464dup
|