Allele Registry

Canonical Allele Identifier: PA2830181973

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000081768

RCV000676692

RCV000987377

ClinVar Variation:

95727

HGVS (amino-acid)	Matching Registered Transcripts
NP_570847.2:p.Ser158Asn	CA285733 NM_130834.2:c.473G>A