Allele Registry

Canonical Allele Identifier: PA916061663

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000873017

RCV001085799

ClinVar Variation:

703420

HGVS (amino-acid)	Matching Registered Transcripts
NP_068815.2:p.Glu322Lys	CA203267440 NM_021980.4:c.964G>A