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Canonical Allele Identifier: Get Identifier
Gene: CNPPD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000353698.5:p.[Asp345_Ser346delinsGluThr;Thr348_His350delinsGlnPro;Cys352_Arg357delinsMetProAlaSerThrPro;Pro360_Ala362delinsGlnSerPro;Ser364_Ser365delinsArgCys;Trp367_His369delinsAlaProGly;Tyr371_Leu373delinsIleProMet;Ala374_Pro375insTrpLeu]
CA1329092171
ENST00000360507.10:c.1033_1034dup