Canonical Allele Identifier: PA1139676473
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 990165
ClinVar RCV Id: RCV001278132

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Thr525Asn
CA340740616
NM_000329.3:c.1574C>A