Canonical Allele Identifier: PA645414393
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 261849
ClinVar RCV Id: RCV000246283 RCV000297940 RCV000338834 RCV000342377 RCV000402056 RCV000514061 RCV000391752 RCV001084053 RCV001828148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ile1836Val
CA6711707
NM_025114.4:c.5506A>G