Canonical Allele Identifier: PA2580461802
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Gln2400_Lys2403del
CA2549685780
NM_025114.4:c.7198_7209del