ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184020
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1318668
ClinVar RCV Id:
RCV001768292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570849.2:p.Glu864Lys
CA2759711
NM_130836.2:c.2590G>A