Canonical Allele Identifier: PA092332
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 29873
ClinVar RCV Id: RCV000022754 RCV000085161 RCV001054426 RCV003317042 RCV003764628
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Tyr431Cys
CA226500
NM_000329.3:c.1292A>G