ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573286714
Gene: CEP290
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_079390.3:p.Lys1903Glu
NM_025114.4:c.5707A>G