ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830184178
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1934587
ClinVar RCV Id:
RCV002632053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Phe211Ser
CA355788209
NM_130837.2:c.632T>C