ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830183699
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484322
ClinVar RCV Id:
RCV002005707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570849.2:p.Thr418Asn
CA355789147
NM_130836.2:c.1253C>A