Allele Registry

Canonical Allele Identifier: PA645459121

Gene: OPTN HGNC NCBI

ClinVar RCV:

RCV000007515

RCV000301689

RCV000356568

RCV000559186

RCV001289042

RCV001610287

RCV004532306

ClinVar Variation:

7098

HGVS (amino-acid)	Matching Registered Transcripts
NP_068815.2:p.Arg545Gln	CA118630 NM_021980.4:c.1634G>A