Allele Registry

Canonical Allele Identifier: PA2830180718

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000201926

RCV000274390

ClinVar Variation:

217843

HGVS (amino-acid)	Matching Registered Transcripts
NP_570845.1:p.Gln419Arg	CA347686 NM_130832.2:c.1256A>G