Allele Registry

Canonical Allele Identifier: PA645414423

Gene: CEP290 HGNC NCBI

ClinVar RCV:

RCV000415801

ClinVar Variation:

374783

HGVS (amino-acid)	Matching Registered Transcripts
NP_079390.3:p.Gln2350Lys	CA16043896 NM_025114.4:c.7048C>A