Canonical Allele Identifier: PA2573167751
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1481159
ClinVar RCV Id: RCV001994112

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Glu519Lys
CA902130
NM_000329.3:c.1555G>A