Canonical Allele Identifier: PA3079274729
Gene: CEP290 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln1136His
CA241167712
NM_025114.4:c.3408A>C
CA386004134
NM_025114.4:c.3408A>T