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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016875469.1:p.[Lys1932Arg;Val1934_Glu1939delinsTyrHisLysIleTrp;Gln1941_Leu1947delinsAsp;Val1949_Lys1950del;Phe1952_Ile1955del;Leu1957_Gln1958delinsSer;Gln1960_Glu1961delinsAsn]
CA2620107599
XM_017019980.2:c.5795del