ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273355
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167403
ClinVar RCV Id:
RCV000153621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Leu451Arg
CA273352
NM_130837.2:c.1352T>G