Allele Registry

Canonical Allele Identifier: PA2573286054

Gene: CEP290 HGNC NCBI

ClinVar RCV:

RCV002012546

ClinVar Variation:

1493033

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Leu594Ser	CA385978145 NM_025114.4:c.1781T>C