Allele Registry

Canonical Allele Identifier: PA645414291

Gene: CEP290 HGNC NCBI

ClinVar RCV:

RCV000249364

RCV001195819

RCV001241555

ClinVar Variation:

261828

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Arg557Cys	CA6712494 NM_025114.4:c.1669C>T