Canonical Allele Identifier: PA2573167730
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372592
ClinVar RCV Id: RCV001873096

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000320.1:p.Pro412Leu
CA23564286
NM_000329.3:c.1235C>T