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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502559.1:p.[Lys1901Arg;Val1903_Glu1908delinsTyrHisLysIleTrp;Gln1910_Leu1916delinsAsp;Val1918_Lys1919del;Phe1921_Ile1924del;Leu1926_Gln1927delinsSer;Gln1929_Glu1930delinsAsn]
CA2620107599
ENST00000675833.1:c.5702del