Canonical Allele Identifier: PA2825290036
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 1972747
ClinVar RCV Id: RCV002730747
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008212.1:p.His197Gln
CA376028255
NM_001008211.1:c.591T>A
CA376028256
NM_001008211.1:c.591T>G