Allele Registry

Canonical Allele Identifier: PA3057546163

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV005221232

ClinVar Variation:

3759145

HGVS (amino-acid)	Matching Registered Transcripts
NP_068815.2:p.Gln398Glu	CA5410896 NM_021980.4:c.1192C>G