ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061669
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
266062
ClinVar RCV Id:
RCV000492219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068815.2:p.Met468Arg
CA203270133
NM_021980.4:c.1403T>G