ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825290684
Gene: OPTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7098
ClinVar RCV Id:
RCV000007515
RCV000301689
RCV000356568
RCV000559186
RCV001289042
RCV001610287
RCV004532306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008214.1:p.Arg545Gln
CA118630
NM_001008213.1:c.1634G>A