Allele Registry

Canonical Allele Identifier: PA2825290654

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007520

ClinVar Variation:

7102

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008214.1:p.Glu478Gly	CA254105 NM_001008213.1:c.1433A>G