Canonical Allele Identifier: PA091985
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13119
ClinVar RCV Id: RCV000013998 RCV000085196 RCV000665910 RCV000986331 RCV001278137 RCV002265555 RCV003460469
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ala132Thr
CA226547
NM_000329.3:c.394G>A