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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.[Ser346Gln;Thr348_Cys352delinsLeuValProTyr;His354Trp;Asn356_Val359delinsGlySer;Thr361Leu;Ser364_Ser365delinsGlu;Trp367_Tyr371del;Leu373del;Pro376_Trp379delinsPheThrSer;Pro381_Leu384delinsAla;Leu386_Gln388delinsAlaMetPhe;Gln390_Ser393del]
CA2663204285
ENST00000360507.10:c.1036_1091del