Allele Registry

Canonical Allele Identifier: PA244174

Gene: CEP290 HGNC NCBI

ClinVar Allele:

193956

ClinVar RCV:

RCV000177662

RCV001080328

RCV001273073

RCV003150971

ClinVar Variation:

196795

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Asp1368Asn	CA244173 NM_025114.4:c.4102G>A