Allele Registry

Canonical Allele Identifier: PA2830182180

Gene: OPA1 HGNC NCBI

ClinVar RCV:

RCV000174378

ClinVar Variation:

194096

HGVS (amino-acid)	Matching Registered Transcripts
NP_570847.2:p.Pro418Leu	CA274972 NM_130834.2:c.1253C>T