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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:
PA2830182847
Gene: OPA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5084
ClinVar RCV Id:
RCV000005389
RCV000790668
RCV001336297
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570848.1:p.Arg309Gln
CA223219
NM_130835.2:c.926G>A