Canonical Allele Identifier: PA2830053612
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 2193292
ClinVar RCV Id: RCV002623919 RCV002607914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Leu1637Pro
CA6711831
NM_025114.4:c.4910T>C