Canonical Allele Identifier: PA092085
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98873
ClinVar RCV Id: RCV000085203 RCV000778252 RCV000678617 RCV001245153 RCV001250708 RCV001831894 RCV004527316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Asp167Tyr
CA226557
NM_000329.3:c.499G>T