Canonical Allele Identifier: PA2580445947
Gene: OPTN HGNC NCBI
ClinVar RCV:
RCV002755785
ClinVar Variation:
1975626
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068815.2:p.Leu54Gln
CA376027271
NM_021980.4:c.161T>A