Canonical Allele Identifier: PA658661982
Gene: CEP290 HGNC NCBI

Linked Data

ClinVar Variation Id: 461773

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Thr400Ile
CA6712602
NM_025114.4:c.1199C>T