Allele Registry

Canonical Allele Identifier: PA2830183744

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000201926

RCV000274390

ClinVar Variation:

217843

HGVS (amino-acid)	Matching Registered Transcripts
NP_570849.2:p.Gln474Arg	CA347686 NM_130836.2:c.1421A>G