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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000513596.1:p.[Phe464Cys;Ser466_Arg469delinsThrMetAlaGln;Gln471_Tyr474delinsSerProPro;Asp476_Gln478delinsProAla;Gly481_His486delinsLeuThrThrLeuThrIle;Gly488Pro;Gln489_Ala490insAspProIleMet;Ser491_Gly492delinsThrArgAlaArgPro;Leu493_Tyr494insAlaSer] |
CA1139667108
ENST00000698177.1:c.1371_1390dup
|