Canonical Allele Identifier: PA226593
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98900
ClinVar RCV Id: RCV000085233 RCV001089895 RCV001854499 RCV003323394
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Tyr318Asn
CA226592
NM_000329.3:c.952T>A