Allele Registry

Canonical Allele Identifier: PA2827913989

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000201926

RCV000274390

ClinVar Variation:

217843

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341592.1:p.Gln314Arg	CA347686 NM_001354663.2:c.941A>G