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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016875472.1:p.[Lys1638Arg;Val1640_Glu1645delinsTyrHisLysIleTrp;Gln1647_Leu1653delinsAsp;Val1655_Lys1656del;Phe1658_Ile1661del;Leu1663_Gln1664delinsSer;Gln1666_Glu1667delinsAsn]
CA2620107599
XM_017019983.2:c.4913del