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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827914449
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010552
ClinVar RCV Id:
RCV002834068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341593.1:p.Gly171Val
CA355788168
NM_001354664.2:c.512G>T