Allele Registry

Canonical Allele Identifier: PA347690

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000201926

RCV000274390

ClinVar Variation:

217843

HGVS (amino-acid)	Matching Registered Transcripts
NP_570850.2:p.Gln492Arg	CA347686 NM_130837.2:c.1475A>G