Canonical Allele Identifier: PA2830053601
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 2439909
ClinVar RCV Id: RCV003144809 RCV003274346
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg1622Cys
CA6711839
NM_025114.4:c.4864C>T