Canonical Allele Identifier: PA092139
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98835
ClinVar RCV Id: RCV000085160 RCV001074061 RCV001323215 RCV003466997 RCV003764786
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Glu417Gln
CA226499
NM_000329.3:c.1249G>C