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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011537068.1:p.[Leu1411_Ser1413delinsPheLeuThr;Leu1415_Leu1418delinsGlyGlnThr;Lys1420_Val1421delinsGlu;Gln1423_Glu1426delinsIleThr;Gln1428_Arg1429delinsPheGly;Ile1431del;Glu1433_Leu1434del;Val1436_Glu1440delinsArgAsnHis]
CA2575242998
XM_011538766.3:c.4231_4232del