Canonical Allele Identifier: PA2830053576
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 2124631
ClinVar RCV Id: RCV003057257
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Ile1573Phe
CA385994058
NM_025114.4:c.4717A>T