Canonical Allele Identifier: PA226498
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98834
ClinVar RCV Id: RCV000085159 RCV001041992 RCV001089894 RCV002509207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Leu408Pro
CA226497
NM_000329.3:c.1223T>C