ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825290415
Gene: OPTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008213.1:p.Arg520His
CA5411016
NM_001008212.2:c.1559G>A