ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825290037
Gene: OPTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008212.1:p.His197Asn
CA5410679
NM_001008211.1:c.589C>A