Canonical Allele Identifier: PA1139757629
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 975660
ClinVar RCV Id: RCV001252434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asp1593Asn
CA385993461
NM_025114.4:c.4777G>A