Canonical Allele Identifier: PA1139676476
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 870342
ClinVar RCV Id: RCV001089889 RCV001210767 RCV001732038 RCV001828545 RCV003769012 RCV002489725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ser533Thr
CA902125
NM_000329.3:c.1597T>A