Canonical Allele Identifier: PA2499231227
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1208476
ClinVar RCV Id: RCV001576822

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly436Arg
CA340742463
NM_000329.3:c.1306G>C
CA340742464
NM_000329.3:c.1306G>A