Canonical Allele Identifier: PA1139676352
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 866422
ClinVar RCV Id: RCV001074419

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Leu437Phe
CA340742451
NM_000329.3:c.1309C>T