Canonical Allele Identifier: PA092240
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13118
ClinVar RCV Id: RCV000986328 RCV001047062 RCV001831568 RCV002496352 RCV003764564 RCV000013997 RCV000085141
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Leu341Ser
CA226472
NM_000329.3:c.1022T>C