ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830181744
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2998401
ClinVar RCV Id:
RCV003857064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570846.1:p.Val829Ala
CA355793300
NM_130833.2:c.2486T>C