Allele Registry

Canonical Allele Identifier: PA118629

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007513

ClinVar Variation:

7096

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008212.1:p.Glu50Lys	CA118628 NM_001008211.1:c.148G>A