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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000498804.1:p.[Ala218Gly;Gln220_Asn226delinsProAlaAlaArgAspCysGlnArgPro;Gly227_Leu228insHis;Asp229_Ser232delinsLeuArgLeuGln;Phe234_Ile238delinsGlyHisLeuValGly;Ser240_Ala241del;Val243_Thr244delinsHisPro;Tyr246_Asn247delinsGln] |
CA504892388
ENST00000652231.1:c.652dup
|