Canonical Allele Identifier: PA202960
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 197574
ClinVar RCV Id: RCV000178636 RCV000637007 RCV001272011 RCV001697163
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Leu2151Ser
CA202959
NM_025114.4:c.6452T>C