Canonical Allele Identifier: PA645414358
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310603
ClinVar RCV Id: RCV000288370 RCV000291084 RCV000345714 RCV000389733 RCV000400374 RCV000548918 RCV001273074 RCV001085312 RCV002294263 RCV003888722 RCV004537751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg1363Trp
CA6712028
NM_025114.4:c.4087C>T