Canonical Allele Identifier: PA2580445967
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_068815.2:p.His197Gln
CA376028255
NM_021980.4:c.591T>A
CA376028256
NM_021980.4:c.591T>G