Canonical Allele Identifier: PA2580114520
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1986858
ClinVar RCV Id: RCV002770833

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Tyr431His
CA23564019
NM_000329.3:c.1291T>C