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Canonical Allele Identifier: Get Identifier
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502678.1:p.Pro154_Ter155insCysIlePheThrValGlnValThrTrpLeuPheIleIleIleGlyAsnAsnIleAsnPheTyrIleValCysTyrIle
CA385986982
ENST00000675361.1:c.465A>T
CA385986985
ENST00000675361.1:c.465A>C