Canonical Allele Identifier: PA2830053616
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 2080974
ClinVar RCV Id: RCV002979596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Leu1641Phe
CA385992847
NM_025114.4:c.4923G>T
CA385992848
NM_025114.4:c.4923G>C