Canonical Allele Identifier: PA2573167739
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1486592
ClinVar RCV Id: RCV002003708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Trp460Cys
CA340742110
NM_000329.3:c.1380G>T
CA340742113
NM_000329.3:c.1380G>C