ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825290683
Gene: OPTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008214.1:p.Arg545Trp
CA5411046
NM_001008213.1:c.1633C>T