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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000308021.8:p.[Lys1645Arg;Val1647_Glu1652delinsTyrHisLysIleTrp;Gln1654_Leu1660delinsAsp;Val1662_Lys1663del;Phe1665_Ile1668del;Leu1670_Gln1671delinsSer;Gln1673_Glu1674delinsAsn]
CA2620107599
ENST00000309041.12:c.4934del