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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000380093.2:p.[Phe392Cys;Ser394_Arg397delinsThrMetAlaGln;Gln399_Tyr402delinsSerProPro;Asp404_Gln406delinsProAla;Gly409_His414delinsLeuThrThrLeuThrIle;Gly416Pro;Gln417_Ala418insAspProIleMet;Ser419_Gly420delinsThrArgAlaArgPro;Leu421_Tyr422insAlaSer] |
CA1139667108
ENST00000396884.8:c.1155_1174dup
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