Canonical Allele Identifier: PA092230
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98888
ClinVar RCV Id: RCV000085218 RCV001218527 RCV001250672 RCV002222384 RCV003764796
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Leu22Pro
CA226576
NM_000329.3:c.65T>C