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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005246520.1:p.[Ser346_Pro347insGln;Thr348_His350delinsAlaMetPro;Cys352_His354delinsSerThr;Asn356_Arg357del;Pro360_Ala362delinsGlnSerPro;Ser364_Ser365delinsArgCys;Trp367_His369delinsAlaProGly;Tyr371_Leu373delinsIleProMet;Ala374_Pro375insTrpLeu]
CA2663204488
XM_005246463.3:c.1040del