ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830183321
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1410229
ClinVar RCV Id:
RCV001916344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Gly949Asp
CA355797716
NM_130835.2:c.2846G>A