Canonical Allele Identifier: PA2741814883
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2926705
ClinVar RCV Id: RCV003788943
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Lys453Glu
CA902190
NM_000329.3:c.1357A>G