Allele Registry

Canonical Allele Identifier: PA2830181466

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000201926

RCV000274390

ClinVar Variation:

217843

HGVS (amino-acid)	Matching Registered Transcripts
NP_570846.1:p.Gln438Arg	CA347686 NM_130833.2:c.1313A>G