Allele Registry

Canonical Allele Identifier: PA2830180726

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000005396

RCV000081749

RCV000508953

RCV003137493

RCV003492285

ClinVar Variation:

5091

HGVS (amino-acid)	Matching Registered Transcripts
NP_570845.1:p.Arg427His	CA275012 NM_130832.2:c.1280G>A