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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000448012.1:p.[Leu1637_Ser1639delinsPheLeuThr;Leu1641_Leu1644delinsGlyGlnThr;Lys1646_Val1647delinsGlu;Gln1649_Glu1652delinsIleThr;Gln1654_Arg1655delinsPheGly;Ile1657del;Glu1659_Leu1660del;Val1662_Glu1666delinsArgAsnHis]
CA2575242998
ENST00000552810.6:c.4909_4910del