ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825290363
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1019966
ClinVar RCV Id:
RCV001319476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008213.1:p.Thr392Ala
CA5410895
NM_001008212.2:c.1174A>G