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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000512301.1:p.Arg1172_Ter1173insPheAsnHisLysValHisThrPheIleGlnAsnPheSerIleLysSerValLeuAsnPheIlePheTyrValLeuPheTyrSerPheLeu |
CA2586964511
ENST00000695974.1:c.3518_*2del
|