Canonical Allele Identifier: PA2573167753
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470027

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Phe530Leu
CA340740548
NM_000329.3:c.1590C>G
CA340740550
NM_000329.3:c.1590C>A
CA340740556
NM_000329.3:c.1588T>C