ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057576488
Gene: OPA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
210979
ClinVar RCV:
RCV000197686
RCV000415438
RCV000487644
RCV000489905
RCV001197504
RCV004737308
RCV004816332
ClinVar Variation:
214916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Arg38_Ser43del
CA090938
NM_130837.2:c.113_130del