ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827913880
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_001341592.1:p.Ser180Ile
CA355788305
NM_001354663.2:c.539G>T