Canonical Allele Identifier: PA645414425
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310589
ClinVar RCV Id: RCV000282628 RCV000295385 RCV000335271 RCV000374397 RCV000400288 RCV000465588 RCV001276480 RCV001700050 RCV001545810 RCV003888721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asp2396Tyr
CA6711331
NM_025114.4:c.7186G>T