ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741981158
Gene: OPTN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068815.2:p.Lys557Thr
CA376030760
NM_021980.4:c.1670A>C