Canonical Allele Identifier: PA2741814873
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2933272
ClinVar RCV Id: RCV003790390

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Glu417Gly
CA340742706
NM_000329.3:c.1250A>G