Canonical Allele Identifier: PA645414404
Gene: CEP290 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Lys1991Asn
CA16619598
NM_025114.4:c.5973G>C
CA385983391
NM_025114.4:c.5973G>T