Canonical Allele Identifier: PA915960565
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 801495
ClinVar RCV Id: RCV000986327 RCV001858636
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ala415Thr
CA340742798
NM_000329.3:c.1243G>A