Canonical Allele Identifier: PA2499231226
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065750
ClinVar RCV Id: RCV001376449

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly428Trp
CA340742562
NM_000329.3:c.1282G>T