ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827914456
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361303
ClinVar RCV Id:
RCV001874288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Thr178Ile
CA355788285
NM_001354664.2:c.533C>T