Canonical Allele Identifier: PA2573167734
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1504643
ClinVar RCV Id: RCV002028958

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Thr432Pro
CA340742518
NM_000329.3:c.1294A>C