Canonical Allele Identifier: PA208990
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 210697
ClinVar RCV Id: RCV000194670 RCV000867286 RCV004530109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Thr1966Ala
CA208989
NM_025114.4:c.5896A>G