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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447527.3:p.[Phe153_Pro154insHisGluSerSerLeuPheLysLeu;Pro154_Ter155insGlyPheLeuLeuLeuLeuValThrIleSerIlePheIleLeuTyrValIlePheGluLys]
CA6712809
ENST00000552770.3:c.459del
CA2523769153
ENST00000552770.3:c.461del