ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830183234
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716867
ClinVar RCV Id:
RCV002296088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Ser830Asn
CA355793180
NM_130835.2:c.2489G>A