Canonical Allele Identifier: PA1139676467
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 845835

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Ala507Ser
CA902138
NM_000329.3:c.1519G>T