Canonical Allele Identifier: PA149315
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 96172
ClinVar RCV Id: RCV000082249 RCV000307654 RCV000351974 RCV000402012 RCV000366483 RCV000408211 RCV000442189 RCV001082252 RCV001273070 RCV004528298
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asp1413His
CA149314
NM_025114.4:c.4237G>C