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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447527.2:p.[Phe106_Pro107insHisGluSerSerLeuPheLysLeu;Pro107_Ter108insGlyPheLeuLeuLeuLeuValThrIleSerIlePheIleLeuTyrValIlePheGluLys]
CA6712809
ENST00000552770.2:c.318del
CA2523769153
ENST00000552770.2:c.320del