Canonical Allele Identifier: PA2573286202
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1381438
ClinVar RCV Id: RCV001888682 RCV002482639
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asn955Ser
CA385969809
NM_025114.4:c.2864A>G