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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000354529.4:p.[Lys99Asn;Tyr101_Gln115delinsIleLeuArgMetLeuLysArgSerTrpPheArgArgSer;Leu117_Asp128delinsAsnIleTyrSerSerTyrArg] |
CA514191642
ENST00000361166.8:c.294del
|