ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830182022
Gene: OPA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570847.2:p.Ser218Phe
CA2759090
NM_130834.2:c.653C>T