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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000417328.1:p.[Pro473Gln;Asp475_Asp485delinsThrTrpLysPheLeuTrpThrProTrpIle;Leu487_Ile494delinsGluSerLysGluPheCys;Ser496_Ser497delinsHisLys;Ala499_Glu500delinsLys;Leu502_Gly505delinsTrpProThr] |
CA340100
ENST00000462484.5:c.1413_1425del
|