Canonical Allele Identifier: PA092159
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98830
ClinVar RCV Id: RCV000085155 RCV000132582 RCV001047503 RCV001074416 RCV001275340 RCV001250675 RCV002498450 RCV004527312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly40Ser
CA226491
NM_000329.3:c.118G>A