Allele Registry

Canonical Allele Identifier: PA2830053605

Gene: CEP290 HGNC NCBI

ClinVar RCV:

RCV002974831

ClinVar Variation:

2068443

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Gln1628Lys	CA385992936 NM_025114.4:c.4882C>A