ClinGen Allele Registry
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Canonical Allele Identifier:
PA645469458
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425319
ClinVar RCV Id:
RCV000488050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Gln840Arg
CA16621812
NM_130837.2:c.2519A>G