ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139748029
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969108
ClinVar RCV Id:
RCV001244376
RCV002436959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068815.2:p.Arg96His
CA5410555
NM_021980.4:c.287G>A