Canonical Allele Identifier: PA2825290597
Gene: OPTN HGNC NCBI

Linked Data

ClinVar Variation Id: 266060
ClinVar RCV Id: RCV000557693 RCV000492386 RCV002374436 RCV002059063
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008214.1:p.Gln314Leu
CA5410811
NM_001008213.1:c.941A>T