Canonical Allele Identifier: PA645414413
Gene: CEP290 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079390.3:p.Asn2148Lys
CA16619596
NM_025114.4:c.6444T>A
CA385978655
NM_025114.4:c.6444T>G