Canonical Allele Identifier: PA2580114529
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2199039
ClinVar RCV Id: RCV002640581

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Lys453Asn
CA340742232
NM_000329.3:c.1359A>T
CA340742233
NM_000329.3:c.1359A>C