Canonical Allele Identifier: PA2573167749
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1350973
ClinVar RCV Id: RCV002051450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Val486Phe
CA340741519
NM_000329.3:c.1456G>T