Canonical Allele Identifier: PA2573167699
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517930
ClinVar RCV Id: RCV002021382

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gln165Leu
CA902498
NM_000329.3:c.494A>T