Canonical Allele Identifier: PA2825290333
Gene: OPTN HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001008213.1:p.Glu289Asp
CA5410767
NM_001008212.2:c.867G>C
CA376028878
NM_001008212.2:c.867G>T