Canonical Allele Identifier: PA207419
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 143156
ClinVar RCV Id: RCV000132681 RCV000193732 RCV000490488 RCV001083794 RCV000988879 RCV001110732 RCV001109949 RCV001109950 RCV001272010 RCV001110731 RCV003888568
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ser2263Gly
CA207418
NM_025114.4:c.6787A>G