ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580461802
Gene: CEP290
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079390.3:p.Gln2400_Lys2403del
CA2549685780
NM_025114.4:c.7198_7209del