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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502371.1:p.[Asp128_Arg129del;Leu131_Glu135delinsAsnTrpArgThrTrp;Glu137_Glu139delinsArgSerTrpArg;Glu141_Lys142delinsArgArg;Val144_Ala149delinsLeuMetSerAsnTrp;Arg151_Asn159delinsPheGluMetArgArgGlnLysMetLys]
CA144396
ENST00000676418.1:c.384_387del