Canonical Allele Identifier: PA916054847
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln1709His
CA6711789
NM_025114.4:c.5127G>T
CA385991228
NM_025114.4:c.5127G>C