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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000308021.7:p.[Leu1639_Ser1641delinsPheLeuThr;Leu1643_Leu1646delinsGlyGlnThr;Lys1648_Val1649delinsGlu;Gln1651_Glu1654delinsIleThr;Gln1656_Arg1657delinsPheGly;Ile1659del;Glu1661_Leu1662del;Val1664_Glu1668delinsArgAsnHis]
CA2575242998
ENST00000309041.11:c.4915_4916del