Canonical Allele Identifier: PA179861
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 166838
ClinVar RCV Id: RCV000152980 RCV000988890 RCV001084283 RCV000658663 RCV001110571 RCV001110570 RCV001275040 RCV002294046 RCV001110567 RCV001110568 RCV001110569
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg360Gln
CA179860
NM_025114.4:c.1079G>A