Canonical Allele Identifier: PA645414399
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310591
ClinVar RCV Id: RCV000303118 RCV000339249 RCV000347524 RCV000391502 RCV000398921 RCV000603796 RCV001341200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ile1922Leu
CA6711648
NM_025114.4:c.5764A>C
CA385984947
NM_025114.4:c.5764A>T