ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827914457
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2016336
ClinVar RCV Id:
RCV002843847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Ser179Ile
CA355788305
NM_001354664.2:c.536G>T