Canonical Allele Identifier: PA913196136
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 596679
ClinVar RCV Id: RCV000732591 RCV002535281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Pro499Leu
CA340741271
NM_000329.3:c.1496C>T