Allele Registry

Canonical Allele Identifier: PA2830180687

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000174378

ClinVar Variation:

194096

HGVS (amino-acid)	Matching Registered Transcripts
NP_570845.1:p.Pro382Leu	CA274972 NM_130832.2:c.1145C>T