Canonical Allele Identifier: PA645414429
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 310584
ClinVar RCV Id: RCV000275155 RCV000287868 RCV000326424 RCV000327940 RCV000384840 RCV002522255
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Pro2459Ser
CA6711279
NM_025114.4:c.7375C>T