Canonical Allele Identifier: PA2580461813
Gene: CEP290 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gly2453Glu
CA385972320
NM_025114.4:c.7358G>A
CA2580086698
NM_025114.4:c.7358_7359delinsAG