Canonical Allele Identifier: PA226481
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 98823
ClinVar RCV Id: RCV000085147 RCV001854496
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ala360Pro
CA226480
NM_000329.3:c.1078G>C