Canonical Allele Identifier: PA645459123
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 266060
ClinVar RCV Id: RCV000557693 RCV000492386 RCV002374436 RCV002059063
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008213.1:p.Gln314Leu
CA5410811
NM_001008212.2:c.941A>T