Allele Registry

Canonical Allele Identifier: PA916061649

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007513

ClinVar Variation:

7096

HGVS (amino-acid)	Matching Registered Transcripts
NP_068815.2:p.Glu50Lys	CA118628 NM_021980.4:c.148G>A