Allele Registry

Canonical Allele Identifier: PA2830182942

Gene: OPA1 HGNC NCBI

ClinVar Allele:

191259

ClinVar RCV:

RCV000174378

ClinVar Variation:

194096

HGVS (amino-acid)	Matching Registered Transcripts
NP_570848.1:p.Pro419Leu	CA274972 NM_130835.2:c.1256C>T