Allele Registry

Canonical Allele Identifier: PA2830179955

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000043607

RCV000081747

RCV000210748

RCV000677258

RCV001249638

RCV001267306

RCV003993775

RCV004537182

ClinVar Variation:

50866

HGVS (amino-acid)	Matching Registered Transcripts
NP_570844.1:p.Ile346Met	CA143824 NM_130831.2:c.1038A>G