Allele Registry

Canonical Allele Identifier: PA2825290426

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007515

RCV000301689

RCV000356568

RCV000559186

RCV001289042

RCV001610287

RCV004532306

ClinVar Variation:

7098

HGVS (amino-acid)	Matching Registered Transcripts
NP_001008213.1:p.Arg545Gln	CA118630 NM_001008212.2:c.1634G>A