Canonical Allele Identifier: PA645414247
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 261827
ClinVar RCV Id: RCV000254461 RCV001113718 RCV001113719 RCV001109701 RCV001109703 RCV001086907 RCV001109702 RCV001572697
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Phe520Leu
CA6712524
NM_025114.4:c.1558T>C
CA385979414
NM_025114.4:c.1560T>G
CA385979416
NM_025114.4:c.1560T>A