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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011537064.1:p.[Leu1668_Ser1670delinsPheLeuThr;Leu1672_Leu1675delinsGlyGlnThr;Lys1677_Val1678delinsGlu;Gln1680_Glu1683delinsIleThr;Gln1685_Arg1686delinsPheGly;Ile1688del;Glu1690_Leu1691del;Val1693_Glu1697delinsArgAsnHis]
CA2575242998
XM_011538762.3:c.5002_5003del