Canonical Allele Identifier: PA2580461634
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 1696398
ClinVar RCV Id: RCV002266543
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Glu1572Asp
CA6711872
NM_025114.4:c.4716A>C
CA385994063
NM_025114.4:c.4716A>T