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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000332256.5:p.[Asn511Thr;Pro512_Ter513insGluGlyLysAlaGlyLeuLeuProGlnThrSerAspGlyGlyMetTrpGlnMetLysCysAlaGlyGlyLysLys] |
CA2630637794
ENST00000329841.10:c.1532del
|