ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645414291
Gene: CEP290
HGNC
NCBI
Linked Data
ClinVar Variation Id:
261828
ClinVar RCV Id:
RCV000249364
RCV001241555
RCV001195819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079390.3:p.Arg557Cys
CA6712494
NM_025114.4:c.1669C>T