Canonical Allele Identifier: PA2580465421
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Phe2250Leu
CA385977422
NM_025114.4:c.6750T>G
CA385977423
NM_025114.4:c.6750T>A
CA385977433
NM_025114.4:c.6748T>C