Canonical Allele Identifier: PA092388
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98846
ClinVar RCV Id: RCV000085173 RCV001257424 RCV001250706 RCV003764787
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Val473Asp
CA226515
NM_000329.3:c.1418T>A