ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830180804
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385404
ClinVar RCV Id:
RCV001888805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570845.1:p.Val538Ile
CA355790516
NM_130832.2:c.1612G>A