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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:
PA645469605
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427152
ClinVar RCV Id:
RCV000489553
RCV001146349
RCV002307519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Val988Ile
CA2759786
NM_130837.2:c.2962G>A