Canonical Allele Identifier: PA1139676472
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 841793

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ser511Arg
CA902136
NM_000329.3:c.1533T>G
CA340741091
NM_000329.3:c.1533T>A
CA340741100
NM_000329.3:c.1531A>C