ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830180803
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723636
ClinVar RCV Id:
RCV002308910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570845.1:p.Val538Gly
CA355790521
NM_130832.2:c.1613T>G