ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741990165
Gene: CEP290
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079390.3:p.Glu2450Gln
CA385972366
NM_025114.4:c.7348G>C