ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830180715
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432190
ClinVar RCV Id:
RCV000497888
RCV003984843
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570845.1:p.Leu416Pro
CA355789650
NM_130832.2:c.1247T>C