Canonical Allele Identifier: PA645414418
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 377291
ClinVar RCV Id: RCV000417476 RCV000765111 RCV001245037 RCV001276484 RCV003889881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Arg2210His
CA6711461
NM_025114.4:c.6629G>A