Canonical Allele Identifier: PA2741814874
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028844
ClinVar RCV Id: RCV003890709

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Pro430His
CA902215
NM_000329.3:c.1289C>A