ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825319457
Gene: OPA3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003116230
ClinVar Variation:
2421928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017989.2:p.Leu14Val
CA406378855
NM_001017989.3:c.40T>G