ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675291
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
266060
ClinVar RCV Id:
RCV000557693
RCV000492386
RCV002374436
RCV002059063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068815.2:p.Gln314Leu
CA5410811
NM_021980.4:c.941A>T