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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000288602.7:p.[Val499Gly;Gln501_Lys513delinsThrLysAsnTrpIleTrpIleIleTrpAsnSerLeuGln;Trp516_Asp519del;Val522_Thr528delinsTrp] |
CA2580077584
ENST00000288602.11:c.1495dup
|