Canonical Allele Identifier: PA092197
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98875
ClinVar RCV Id: RCV000085205 RCV001257821 RCV001388257 RCV004527317
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.His182Tyr
CA226559
NM_000329.3:c.544C>T