Canonical Allele Identifier: PA2499231231
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1056969
ClinVar RCV Id: RCV001365877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly496Arg
CA340741342
NM_000329.3:c.1486G>C
CA340741343
NM_000329.3:c.1486G>A