Canonical Allele Identifier: PA2825125320
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 3233354
ClinVar RCV Id: RCV004527504

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Phe418Tyr
CA340742683
NM_000329.3:c.1253T>A