ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580461413
Gene: CEP290
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003083591
ClinVar Variation:
2151060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079390.3:p.Arg205Gly
CA385986280
NM_025114.4:c.613C>G