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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:
PA916060078
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
802038
ClinVar RCV Id:
RCV000987378
RCV001374996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570850.2:p.Asp351His
CA355788173
NM_130837.2:c.1051G>C