Canonical Allele Identifier: PA658663702
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 467827
ClinVar RCV Id: RCV000542372 RCV000754974 RCV003470756 RCV003767007
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly140Glu
CA340747862
NM_000329.3:c.419G>A