Canonical Allele Identifier: PA1139676475
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 941838
ClinVar RCV Id: RCV001211697

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Gly528Arg
CA23562482
NM_000329.3:c.1582G>A
CA340740575
NM_000329.3:c.1582G>C