ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825290226
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2078827
ClinVar RCV Id:
RCV002988839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008213.1:p.Met65Thr
CA376027358
NM_001008212.2:c.194T>C