Canonical Allele Identifier: PA2499291484
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1195974
ClinVar RCV Id: RCV001559310 RCV001559311 RCV001559312 RCV001559309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Val2093Ile
CA385979405
NM_025114.4:c.6277G>A