Canonical Allele Identifier: PA645414310
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 381032
ClinVar RCV Id: RCV000436721 RCV001242972 RCV004532991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asn728Ser
CA6712388
NM_025114.4:c.2183A>G