Allele Registry

SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.

Canonical Allele Identifier: PA2830180070

Gene: OPA1 HGNC NCBI

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570844.1:p.Leu498Arg	CA357235 NM_130831.2:c.1493T>G