ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057530228
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005193210
ClinVar Variation:
3711355
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Thr214Ile
CA355788240
NM_130837.2:c.641C>T