ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827914469
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2713156
ClinVar RCV Id:
RCV003548283
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Ile189Met
CA2759263
NM_001354664.2:c.567A>G