Canonical Allele Identifier: PA092110
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98904
ClinVar RCV Id: RCV000085237 RCV000808234 RCV001250691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Cys330Tyr
CA226599
NM_000329.3:c.989G>A