Canonical Allele Identifier: PA092278
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 13117
ClinVar RCV Id: RCV001250693 RCV000815732 RCV001826460 RCV003460468 RCV000013996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Pro363Thr
CA256730
NM_000329.3:c.1087C>A