Canonical Allele Identifier: PA2825289969
Gene: OPTN HGNC NCBI
ClinVar RCV:
RCV002755785
ClinVar Variation:
1975626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008212.1:p.Leu54Gln
CA376027271
NM_001008211.1:c.161T>A