Canonical Allele Identifier: PA233683
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 166841
ClinVar RCV Id: RCV001110739 RCV001079764 RCV001110738 RCV001110740 RCV000723892 RCV001818343 RCV001109956 RCV001110741 RCV003298162 RCV004528882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ala76Thr
CA233682
NM_025114.4:c.226G>A