ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322845
Gene: OPA1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_570850.2:p.Ile458Thr
NM_130837.2:c.1373T>C