ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830183753
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000622959
ClinVar Variation:
521289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570849.2:p.Arg482Pro
CA355789734
NM_130836.2:c.1445G>C